Gene Summary

Name:
activation-induced cytidine deaminase
Synonyms:
Aid

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased germinal center B cell number Aicdatm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased late germinal center B cell number Aicdatm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased mean corpuscular hemoglobin Aicdatm1b(EUCOMM)Hmgu HOM Early adult 9.94×10-06
decreased follicular B cell number Aicdatm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased leukocyte cell number Aicdatm1b(EUCOMM)Hmgu HOM Early adult 1.62×10-05
increased mean corpuscular hemoglobin concentration Aicdatm1b(EUCOMM)Hmgu HOM Early adult 7.45×10-05
increased early germinal center B cell number Aicdatm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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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

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Legacy Phenotype Associated Images

View all 63 images

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.

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 upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258

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

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Recurrent infections, Decreased c... OMIM:616452
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Abnormal lymphocyte morphology, Decreased circ... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Complement Component 7 Deficiency
Complement deficiency, Recurrent meningococcal disease, Recurrent Neisserial infections, Decrease... OMIM:610102
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Recurrent infections OMIM:235900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... OMIM:612446
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurren... OMIM:613501
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Complement Factor D Deficiency
Complement deficiency, Recurrent bacterial infections OMIM:613912
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619281
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent infections, Recurrent respiratory infections OMIM:617744
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Recurrent otitis media, Herpes simplex encephalitis, Molluscum c... OMIM:618982
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increa... OMIM:610163
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurrent... OMIM:613502
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Disseminated nontuberculous myco... OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent en... ORPHA:331206
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infections, Abnorma... ORPHA:276
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... OMIM:618394
Immunodeficiency 48
Recurrent candida infections, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, Recurrent gastroenteritis, Recurren... ORPHA:275
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Diarrhea, ... OMIM:612692
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 37
Decreased circulating antibody level, Recurrent infections, Decreased proportion of central memor... OMIM:616098
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Bronchiol... OMIM:614878
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD4-positive helper T cells, Decreased circulating ... OMIM:312863
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Onychomycosis, Frequent Giard... OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:616100
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... OMIM:617514
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, A... OMIM:601495
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Neutropenia, ... OMIM:193670
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infections, Neutropenia OMIM:246550
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibod... OMIM:300853
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent viral infections, Re... OMIM:608957
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Myeloma, Multiple
Paraproteinemia OMIM:254500
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections OMIM:614069
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Decreased circulating antibody level,... ORPHA:2585
Immunodeficiency 47
Decreased circulating antibody level, Recurrent bacterial infections, Leukopenia, Splenomegaly OMIM:300972
Immunodeficiency 51
Recurrent bronchitis, Cutaneous abscess, Chronic oral candidiasis, Recurrent Staphylococcus aureu... OMIM:613953
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... OMIM:607624
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Recurrent respiratory infections OMIM:618042
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent bacterial skin infections, Recurren... ORPHA:217390
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... OMIM:617475
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Complement Factor B Deficiency
Peritonitis, Decreased serum complement factor B, Meningitis, Recurrent meningococcal disease, Re... OMIM:615561
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... OMIM:613101
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count ORPHA:100024
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Autoimmune thrombocyt... OMIM:614700
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly, Recu... OMIM:616005
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Recurrent infections, Transient hypogammaglobulinemia of infancy OMIM:251240
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... OMIM:615122
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Recurrent infections OMIM:618048
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent infections, Splenomegaly OMIM:605309
Complement Factor H Deficiency
Decreased serum complement factor H, Depletion of components of the alternative complement pathwa... OMIM:609814
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmonary infections, Recu... OMIM:243700
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Complete or near-complete absence of specific antibody response to t... OMIM:613496
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Recurrent sta... OMIM:615816
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia, Sepsis, Rec... ORPHA:33355
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... OMIM:251190
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphocytosis, Decreased proportion of CD8-positive T cells, ... ORPHA:911
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Recurrent infections, Aplas... OMIM:300635
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Histoplasmos... ORPHA:319552
Complement Component 3 Deficiency, Autosomal Recessive
Decreased serum complement C3, Recurrent bacterial infections OMIM:613779
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia ORPHA:83313
Alopecia Antibody Deficiency
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:1006
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus aureus inf... OMIM:147060
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Decreased proportion o... OMIM:208900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating total IgM, Decreased... ORPHA:221139
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Increased circulating IgE level OMIM:618985
Angiostrongyliasis
Increased circulating IgM level, Unusual CNS infection, Increased circulating specific IgE antibo... ORPHA:74
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Bloom Syndrome
Recurrent upper respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:210900
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Recurrent viral infections, Hypoplasia of ... OMIM:603554
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Complement Component 5 Deficiency
Decreased serum complement C5, Intractable diarrhea, Recurrent meningococcal disease, Reduced hem... OMIM:609536
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:586
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Persistent EBV viremia, Autoimmune hemolytic anemia, Decreased circu... OMIM:613011
N Syndrome
Abnormality of chromosome stability OMIM:310465
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating... OMIM:612301
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Recurrent otitis media, Increased circulating IgE level, Recurrent respiratory infections, Eosino... OMIM:618523
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Recurrent upper respiratory tract infections OMIM:602450
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, P... ORPHA:90045
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Caffey Disease
Increased circulating antibody level ORPHA:1310
Bloom Syndrome
Recurrent herpes, Recurrent tonsillitis, Severe toxoplasmosis, Recurrent gastroenteritis, Decreas... ORPHA:125
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Recurrent viral infections, Neutropenia, Recurrent sinopulmon... ORPHA:486
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Recurrent infections, Panhypogammaglobulinemia ORPHA:251009
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splenomegaly, Recurrent respiratory... OMIM:613385
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgG level, Hy... OMIM:617388
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia, Recurrent ... ORPHA:2268
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Increased circulating IgM level, Neutropenia, Recurrent bronchopulmonary inf... OMIM:617303
Zika Virus Disease
Thrombocytopenia, Meningitis, Increased circulating IgM level, Encephalitis ORPHA:448237
Lipodystrophy, Congenital Generalized, Type 4
Recurrent infections, Decreased circulating IgA level, Splenomegaly OMIM:613327
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:615952
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Iga Pemphigus
Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula... ORPHA:555905
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Recu... ORPHA:79124
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Panhypogammaglobulinemia, M... OMIM:307200
Riddle Syndrome
Recurrent sinusitis, Recurrent viral infections, Decreased circulating IgA level, Recurrent pneum... ORPHA:420741
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections ORPHA:100
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Anemia, Splenomegaly, Sepsis, Hepatosplenomegaly, Rec... OMIM:612840
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, Re... OMIM:615934
Netherton Syndrome
Recurrent infections, Decreased circulating IgG level, Increased circulating IgE level, Hypereosi... OMIM:256500
Good Syndrome
Decreased circulating antibody level, Recurrent urinary tract infections, Thrombocytopenia, Anemi... ORPHA:169105
Roifman Syndrome
Decreased circulating antibody level, Recurrent otitis media, Recurrent pneumonia, Hepatosplenome... ORPHA:353298
C3 Glomerulopathy
Decreased serum complement C3, Paraproteinemia, Decreased serum complement C4, Recurrent infections ORPHA:329918
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections, Recurrent bacterial infections OMIM:612783
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Autosomal Agammaglobulinemia
Neutropenia, Meningitis, Recurrent infections, Agammaglobulinemia, Sepsis, Recurrent respiratory ... ORPHA:33110
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Autoimmune thrombocytopenia, Recurrent upper resp... ORPHA:293978
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Tularemia
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocytopenia, Meningit... ORPHA:3392
Dubowitz Syndrome
Recurrent infections, Aplastic anemia, Decreased circulating IgA level, Acute lymphoblastic leuke... OMIM:223370
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Decreased serum complement factor B, Recurrent otiti... OMIM:610984
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Lymphopenia ORPHA:90363
Primary Biliary Cholangitis
Recurrent fungal infections, Increased circulating IgM level, Onychomycosis, Increased circulatin... ORPHA:186
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent fungal infections, Recurrent viral infections, Thrombocytopenia, Meni... ORPHA:169090
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Leukocytosis, Rectal abscess, Recurrent bacterial infections... OMIM:116920
Hyper-Igd Syndrome
Chronic oral candidiasis, Leukocytosis, Molluscum contagiosum, Splenomegaly, Recurrent infections... OMIM:260920
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Recurrent infections OMIM:300953
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Pyoderma, Meningitis, Agammaglobulinemia, Encephalitis, Recur... OMIM:300755
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Herpes encephalitis, Thro... OMIM:233600
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Pneumocystosis
Increased circulating antibody level, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count... ORPHA:723
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Agammaglobulinemia, Recurrent respiratory infections, Anemia ORPHA:935
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections, Neutropenia OMIM:608809
Tick-Borne Encephalitis
Increased circulating IgM level, Leukocytosis, Unusual CNS infection, Abnormality of serum cytoki... ORPHA:297
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Meningitis, Recurrent cutaneous abscess formation, Agammaglobuline... ORPHA:47
Immunodeficiency 58
Cutaneous abscess, Recurrent upper respiratory tract infections, Helicobacter pylori infection, D... OMIM:618131
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Recurrent gastroenteritis, Decreased circulating IgG level, Thro... ORPHA:505248
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Leukopenia, S... ORPHA:381
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Thymic Tumor
Dysgammaglobulinemia ORPHA:100100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Decreased circulating antibody level, Thrombocytosis, Recurrent infections OMIM:226300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Netherton Syndrome
Recurrent infections, Decreased circulating antibody level, Increased circulating IgE level, Recu... ORPHA:634
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Recurrent infections, Anemi... OMIM:170100
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Recurrent infections, Eosinophilia OMIM:617425
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... ORPHA:540
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Impaired ADP-induced plate... OMIM:608233
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Recurrent infections, Anemia... OMIM:617591
Common Variable Immunodeficiency
Recurrent bronchitis, Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibo... ORPHA:1572
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Recurre... OMIM:603585
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... OMIM:242840
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media OMIM:618428
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Vici Syndrome
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgG2 level, Recurren... ORPHA:1493
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Meningitis, Encephalitis, ... ORPHA:79139
Whim Syndrome
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Lymphopenia, ... ORPHA:51636
Immunodeficiency 54
Chromosome breakage OMIM:609981
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Recurrent infections, Splenomega... ORPHA:33226
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... ORPHA:29073
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly ORPHA:3162
Coccidioidomycosis
Coccidioidal meningitis, Increased circulating IgM level, Unusual CNS infection, Granuloma, Incre... ORPHA:228123
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent bronchitis, Autoimmune hemolytic anemia, Recurrent urinary tract inf... OMIM:251260
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage OMIM:614083
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Decreased circulating antibody level, Lymphopenia, Meningitis ORPHA:90362
Brucellosis
Lung abscess, Increased circulating IgM level, Thrombocytosis, Leukocytosis, Granuloma, Thrombocy... ORPHA:1304
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autosomal Dominant Hyper-Ige Syndrome
Recurrent infections, Increased circulating IgE level, Recurrent respiratory infections, Eosinoph... ORPHA:2314
Cystic Echinococcosis
Invasive parasitic infection, Peritoneal abscess, Increased circulating antibody level, Splenic c... ORPHA:400
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections ORPHA:86816
Mirage Syndrome
Lymphopenia, Gastroesophageal reflux, Recurrent urinary tract infections, Chronic diarrhea, Achal... OMIM:617053
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Recurrent bacterial infections, Vacuolated lymphocytes, Spl... OMIM:248500
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level, Recurrent respiratory infections OMIM:607143
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Bone mar... ORPHA:86839
Aspergillosis
Increased circulating IgE level, Unusual CNS infection, Neutropenia, Meningitis, Encephalitis, In... ORPHA:1163
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly OMIM:611762
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent systemic pyogenic infections, Recurrent bact... OMIM:214500
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Gaucher Disease Type 1
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hyper... ORPHA:77259
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Recurrent... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... OMIM:614576
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Increased red cell sickling tendency, Splenomegaly, Recurrent bac... OMIM:603903
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recurrent otitis... OMIM:615688
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Cowden Syndrome 1
Decreased circulating antibody level, Lymphopenia, Recurrent infections OMIM:158350
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Hypocomplementemic Urticarial Vasculitis
Meningitis, Complement deficiency, Diarrhea, Splenomegaly, Recurrent bacterial infections ORPHA:36412
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia... ORPHA:227990
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Thrombocytopenia, Recurrent infections, Anemia, Normocyti... OMIM:610377
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Chronic neutropenia, Recurrent viral infections, Neutropenia, ... ORPHA:811
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Peritonitis, Recurrent tonsillitis, Thrombocytosis, Recurrent fung... ORPHA:2968
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Gaucher Disease Type 3
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Recur... ORPHA:77261
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly ORPHA:171
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Sepsis, Recurrent infections, Anemia ORPHA:79396
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Thrombocytopenia, Increased circulating IgG level, Leukopeni... ORPHA:2298
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia... ORPHA:227982
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Q Fever
Cryoglobulinemia, Increased circulating antibody level, Granuloma, Thrombocytopenia, Meningitis, ... ORPHA:781
Leukocyte Adhesion Deficiency Type Ii