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Gene: Aicda MGI:1342279

Gene Summary

Name:

activation-induced cytidine deaminase

Synonyms:

Aid

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased germinal center B cell number	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased follicular B cell number	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased late germinal center B cell number	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.94×10^-06
increased early germinal center B cell number	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased leukocyte cell number	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.62×10^-05
increased mean corpuscular hemoglobin concentration	Aicda^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.45×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

16 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

20 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

25 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Aicda^{tm1b(EUCOMM)Hmgu}
HOM, Female, WTSI

Aicda^{tm1b(EUCOMM)Hmgu}
HOM, Male, WTSI

View all 63 images

Aicda^{tm1b(EUCOMM)Hmgu}
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI

Aicda^{tm1b(EUCOMM)Hmgu}
head, abnormal snout morphology, upturned snout, HOM, Female, WTSI

Aicda^{tm1b(EUCOMM)Hmgu}
abnormal retinal pigmentation, HOM, Male, WTSI

Aicda^{tm1b(EUCOMM)Hmgu}
abnormal pupil morphology, HOM, Female, WTSI

Aicda^{tm1b(EUCOMM)Hmgu}
corneal opacity, HOM, Female, WTSI

Human diseases caused by Aicda mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Aicda (1 diseases)
Human diseases predicted to be associated with Aicda (706 diseases)

The table below shows human diseases associated to Aicda by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency With Hyper-Igm, Type 2		Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258

The table below shows human diseases predicted to be associated to Aicda by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections...	OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 44	Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu...	OMIM:616636
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Complement Component 6 Deficiency	Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre...	OMIM:612446
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Complement Factor D Deficiency	Recurrent bacterial infections, Partial functional complement factor D deficiency	OMIM:613912
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ...	OMIM:613501
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections	OMIM:606445
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration	OMIM:613789
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo...	OMIM:618982
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp...	OMIM:618944
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu...	ORPHA:98813
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida...	OMIM:614069
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr...	OMIM:615592
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu...	OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, H...	ORPHA:169160
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating tota...	OMIM:619510
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea...	OMIM:614878
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Activated Pi3K-Delta Syndrome	Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating ant...	ORPHA:397596
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In...	OMIM:616098
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
Immunodeficiency 92	Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, BCGosis, Decreased proportion of cla...	OMIM:619652
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Persisten...	OMIM:620282
Immunodeficiency 51	Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe...	OMIM:613953
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 48	Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid...	OMIM:269840
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Kimura Disease	Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up...	OMIM:616100
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr...	OMIM:615577
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur...	OMIM:619752
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:615767
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo...	OMIM:618282
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Immunodeficiency 19	Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab...	OMIM:615617
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency 22	Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to...	OMIM:615758
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I...	OMIM:615285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ...	OMIM:601457
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul...	OMIM:617638
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ...	ORPHA:277
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Schnitzler Syndrome	Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia	ORPHA:37748
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis	ORPHA:168621
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph...	OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re...	ORPHA:436159
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections...	ORPHA:217390
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618042
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Complement Factor B Deficiency	Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacterial infecti...	OMIM:615561
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p...	OMIM:601495
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c...	OMIM:616576
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections...	OMIM:618495
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Recurre...	OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Abnormal natural ...	OMIM:613101
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ...	OMIM:618116
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Complement Factor H Deficiency	Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De...	OMIM:609814
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,...	OMIM:614700
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch...	OMIM:613496
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Decreased circulating complement C3 concentr...	OMIM:613779
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Complement Component 5 Deficiency	Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Dec...	OMIM:609536
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon...	OMIM:615122
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc...	OMIM:615816
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib...	ORPHA:33355
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Primary Intestinal Lymphangiectasia	Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating...	ORPHA:90362
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod...	OMIM:301045
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly, ...	OMIM:620210
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir...	OMIM:618986
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect...	ORPHA:183675
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat...	OMIM:300635
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb...	ORPHA:911
Boutonneuse Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia	ORPHA:83313
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616910
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu...	OMIM:147060
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D...	OMIM:620040
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ...	ORPHA:74
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Anemia	ORPHA:100025
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O...	ORPHA:83471
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren...	OMIM:615207
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom...	OMIM:613011
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
N Syndrome	Abnormality of chromosome stability	OMIM:310465
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino...	OMIM:618523
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev...	OMIM:612301
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Immunodeficiency 12	Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent ...	OMIM:615468
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Zika Virus Disease	Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis	ORPHA:448237
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir...	OMIM:300972
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, Recurrent upp...	OMIM:602450
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,...	OMIM:208900
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,...	ORPHA:90045
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG...	OMIM:226990
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r...	OMIM:613179
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig...	OMIM:607143
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent...	ORPHA:125
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability	OMIM:614082
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia, Recurrent infections	ORPHA:251009
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Mogs-Cdg	Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea...	ORPHA:79330
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin...	OMIM:613385
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent bronchopulmonary infe...	OMIM:617303
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:615952
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho...	ORPHA:79124
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab...	OMIM:301000
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In...	OMIM:617388
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bloom Syndrome	Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota...	OMIM:210900
Complement Factor I Deficiency	Recurrent urinary tract infections, Decreased circulating complement factor B concentration, Recu...	OMIM:610984
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec...	ORPHA:90363
Ataxia-Telangiectasia	Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level	ORPHA:100
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula...	ORPHA:507
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Roifman Syndrome	Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Recu...	ORPHA:353298
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Riddle Syndrome	Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus...	ORPHA:420741
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level	OMIM:613327
C3 Glomerulopathy	Recurrent infections, Paraproteinemia, Decreased circulating complement C3 concentration, Decreas...	ORPHA:329918
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level	OMIM:212750
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Increased circulating IgA level, Recurrent infections, Increase...	OMIM:615934
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia, ...	ORPHA:33110
Tularemia	Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Meningitis, Thrombocyt...	ORPHA:3392
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ...	OMIM:620005
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec...	OMIM:256500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Recurrent pneumonia, Decreased circulating antibody level	OMIM:619750
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Rift Valley Fever	Severe viral infection, Anemia, Increased circulating IgG level, Increased circulating IgM level,...	ORPHA:319251
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S...	ORPHA:169090
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Primary Biliary Cholangitis	Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin...	ORPHA:186
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Pneumocystosis	Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Increased circulating antibody level,...	ORPHA:723
Macrocephaly/Autism Syndrome	Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,...	OMIM:605309
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Recurrent i...	OMIM:619381
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia, Thrombocytosi...	OMIM:226300
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re...	OMIM:260920
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Anemia, N...	ORPHA:47
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane...	OMIM:304790
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia	ORPHA:935
Tick-Borne Encephalitis	Meningitis, Leukocytosis, Unusual CNS infection, Increased circulating IgG level, Increased circu...	ORPHA:297
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level	ORPHA:562639
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula...	ORPHA:505248
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Prolidase Deficiency	Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulating antibody l...	OMIM:170100
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ...	ORPHA:381
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease...	ORPHA:634
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Fanconi Anemia, Complementation Group T	Chromosomal breakage induced by crosslinking agents	OMIM:616435
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc...	ORPHA:540
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents	OMIM:605724
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Dubowitz Syndrome	Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le...	OMIM:223370
Ebola Hemorrhagic Fever	Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	ORPHA:319218
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Recurrent infections, Anemia, Increased circulating antibody level, Lymphopenia, Th...	OMIM:617591
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, De...	ORPHA:1572
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura...	OMIM:608233
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Recurrent infections, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Japanese Encephalitis	Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ...	ORPHA:79139
Immunodeficiency 54	Chromosome breakage	OMIM:609981
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio...	ORPHA:1493
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Recurrent infections, Leukemia, Cryo...	ORPHA:33226
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar...	ORPHA:293978
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci...	ORPHA:29073
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level	ORPHA:3162
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Thymoma	Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli...	ORPHA:99867
Alg12-Cdg	Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in...	ORPHA:79324
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Coccidioidomycosis	Coccidioidal meningitis, Abscess, Eosinophilia, Abnormality of the spleen, Invasive fungal infect...	ORPHA:228123
Brucellosis	Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas...	ORPHA:1304
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea...	OMIM:242900
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci...	ORPHA:79078
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv...	OMIM:614034
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Postinfectious Vasculitis	Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost...	ORPHA:48435
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Folate-dependent fragile site at Xq28	ORPHA:85327
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Cystic Echinococcosis	Invasive parasitic infection, Eosinophilia, Abscess, Unusual infection, Increased circulating ant...	ORPHA:400
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Mirage Syndrome	Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Anemia, Leukopenia, Recurrent bacte...	OMIM:617053
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect...	ORPHA:2314
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Aspergillosis	Eosinophilia, Meningitis, Increased circulating IgE level, Unusual CNS infection, Invasive pulmon...	ORPHA:1163
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa...	ORPHA:158061
Encephalitis Lethargica	Increased circulating antibody level, Recurrent viral infections	ORPHA:83600
Fanconi Anemia, Complementation Group S	Chromosome breakage	OMIM:617883
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib...	OMIM:248500
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev...	ORPHA:77259
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De...	OMIM:242840
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat...	ORPHA:99829
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Trichothiodystrophy 5, Nonphotosensitive	Chronic decreased circulating IgG1, Recurrent infections	OMIM:300953
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi...	ORPHA:167
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang...	ORPHA:2137
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ...	OMIM:251260
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Cowden Syndrome 1	Lymphopenia, Recurrent infections, Decreased circulating antibody level	OMIM:158350
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:26790
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp...	OMIM:610377
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Anisocytosis, Leukocytosis, ...	OMIM:618278
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Diarrhea, Recurrent bacterial infections, Complement deficiency, Meningitis	ORPHA:36412
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve...	OMIM:615688
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level	OMIM:615508
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, Decreased circ...	ORPHA:227990
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase...	ORPHA:99827
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents	OMIM:610832
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, Decreased circ...	ORPHA:227982
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib...	ORPHA:77261
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Leukocytosis, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Infla...	OMIM:615895
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents	OMIM:617244
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hereditary Chronic Pancreatitis	Leukocytosis	ORPHA:676
Q Fever	Unusual infection, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Granuloma, Increased circu...	ORPHA:781
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Lig4 Syndrome	Abnormality of chromosome stability	ORPHA:99812
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Decreased circulating antibody level	OMIM:618183
Leukocyte Adhesion Deficiency Type Ii	Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, Abnormal isohem...	ORPHA:99843
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level	ORPHA:79396
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgA level, Increas...	ORPHA:2298
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Scleromyxedema	Paraproteinemia	ORPHA:167635
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	ORPHA:37042
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents	OMIM:609053
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An...	ORPHA:284
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia	ORPHA:2905
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp...	ORPHA:160
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability	OMIM:300514
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,...	OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Fanconi Anemia, Complementation Group P	Chromosomal breakage induced by crosslinking agents	OMIM:613951
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Igg4-Related Pachymeningitis	Complement deficiency, Eosinophilia, Increased circulating IgG4 level	ORPHA:449427
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Al Amyloidosis	Howell-Jolly bodies, Increased circulating antibody level, Anemia	ORPHA:85443
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Recurrent infections, Hypoplasia of the thymus, Thr...	ORPHA:84064
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Primary Sjögren Syndrome	Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant...	ORPHA:289390
Fanconi Anemia, Complementation Group L	Chromosome breakage, Chromosomal breakage induced by crosslinking agents	OMIM:614083
Cysticercosis	Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re...	ORPHA:244
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Chronic diarrhea, Steatorrhea	ORPHA:2176
Lysinuric Protein Intolerance	Complement deficiency, Diarrhea, Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating an...	ORPHA:470
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:600901
Hennekam Syndrome	Splenomegaly, Lymphopenia, Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:2136
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci...	OMIM:619472
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227650
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Glycogen Storage Disease Ib	Splenomegaly, Inflammation of the large intestine, Recurrent bacterial infections, Neutropenia	OMIM:232220
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Revesz Syndrome	Abnormality of chromosome stability	OMIM:268130
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Meconium ileus, Recurrent Bur...	ORPHA:586
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level	OMIM:222470
Trichothiodystrophy	Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur...	ORPHA:33364
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Recur...	OMIM:615846
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227645
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Fanconi Anemia, Complementation Group F	Chromosomal breakage induced by crosslinking agents	OMIM:603467
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Cartilage-Hair Hypoplasia	Abnormality of chromosome stability	ORPHA:175
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Anemia, Decreased circulating antibody level	ORPHA:247598
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85450
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449395
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227646
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections,...	ORPHA:79259
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr...	OMIM:274000
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia	OMIM:181000
Lymphatic Filariasis	Circulating immune complexes, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophil...	ORPHA:2035
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Severe infection, Neutrophilia in presence of infection, Leukopenia...	ORPHA:99826
Nijmegen Breakage Syndrome	Abnormality of chromosome stability	ORPHA:647
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Fanconi Anemia	Abnormality of chromosome stability	ORPHA:84
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Gaucher Disease	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:355
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ...	OMIM:602782
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Meningioma	Chromosomal breakage induced by ionizing radiation	ORPHA:2495
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Sponastrime Dysplasia	Recurrent pneumonia, Neutropenia, Decreased circulating antibody level	ORPHA:93357
Systemic Lupus Erythematosus	Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,...	ORPHA:536
Simpson-Golabi-Behmel Syndrome	Splenomegaly, Increased circulating IgE level, Polysplenia	ORPHA:373
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections	ORPHA:500150
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
Hereditary Sensory And Autonomic Neuropathy Type 4	Abscess, Recurrent Staphylococcus aureus infections, Abnormality of humoral immunity, Dysphagia, ...	ORPHA:642
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Recurrent infections, Recurrent otitis media, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Recurrent infections, Recurrent otitis media, Decreased circulating antibody level	ORPHA:2152
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp...	ORPHA:99889
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Recurrent infections, Recurrent otitis media, Decreased circulating antibody level	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aicda

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aicda.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Affinity-Restricted Memory B Cells Dominate Recall Responses to Heterologous Flaviviruses.	Immunity (October 2020)	Aicda^{tm1a(EUCOMM)Hmgu}	33010224
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Aicda^{tm1b(EUCOMM)Hmgu}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Aicda^{tm1b(EUCOMM)Hmgu}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Aicda^{tm1b(EUCOMM)Hmgu}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Aicda^{tm1b(EUCOMM)Hmgu}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Aicda^{tm1b(EUCOMM)Hmgu}	PMC5827107

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MGI Allele	Allele Type	Produced
Aicda^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Aicda^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Aicda^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aicda MGI:1342279

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Spleen Immunophenotyping

Mesenteric Lymph Node Immunophenotyping

X-ray

X-ray

X-ray

DSS Histology

Anti-nuclear antibody assay

Eye Morphology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Aicda mutations

Histopathology

IMPC related publications

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