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Gene: Bcl10 MGI:1337994

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

B cell leukemia/lymphoma 10

Synonyms:

BCL-10, cE10, mE10

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Bcl10 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 Bcl10 (6 diseases)
Human diseases predicted to be associated with Bcl10 (634 diseases)

The table below shows human diseases associated to Bcl10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Lymphoma, Mucosa-Associated Lymphoid Type		OMIM:137245
Lymphoma, Non-Hodgkin, Familial		OMIM:605027
Mesothelioma, Malignant		OMIM:156240
Testicular Germ Cell Tumor		OMIM:273300

The table below shows human diseases predicted to be associated to Bcl10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio...	OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
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 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections	OMIM:606445
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio...	OMIM:613502
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 44	Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu...	OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio...	OMIM:612692
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Death in infancy, Persistent CMV viremia, Autoimmun...	OMIM:617514
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
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
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Recurrent ...	ORPHA:98813
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida...	OMIM:614069
Immunodeficiency 15B	Death in infancy, Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections,...	OMIM:615592
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections	OMIM:616911
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp...	ORPHA:277
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu...	OMIM:618261
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota...	OMIM:619510
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia...	OMIM:243700
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Immunodeficiency 51	Recurrent respiratory infections, Abnormal lymphocyte physiology, Chronic mucocutaneous candidias...	OMIM:613953
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Splenomegaly, ...	OMIM:620210
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Death in childhood, Reduced...	OMIM:607624
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig...	ORPHA:2643
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency 48	Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid...	OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD...	OMIM:619846
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Disseminated nontuberculous my...	OMIM:300636
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
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 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency 19	Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp...	OMIM:615617
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up...	OMIM:616100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
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
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Increased circula...	OMIM:619752
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf...	ORPHA:331235
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death i...	OMIM:619164
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea...	OMIM:614878
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ...	OMIM:616740
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
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
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
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, R...	ORPHA:169160
Immunodeficiency 22	Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to...	OMIM:615758
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul...	OMIM:209950
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection...	ORPHA:572
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia...	OMIM:618986
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Schnitzler Syndrome	Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia	ORPHA:37748
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Decreased circula...	OMIM:618042
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Dec...	OMIM:615577
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci...	OMIM:137100
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections	OMIM:146830
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased c...	ORPHA:397596
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
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
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re...	ORPHA:436159
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph...	OMIM:618108
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Recurre...	OMIM:618048
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
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade...	OMIM:614700
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop...	OMIM:602450
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon...	OMIM:615122
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Decreased circulating antibody level, Recurrent inf...	OMIM:301045
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Decreased proportion of class-switched ...	OMIM:619126
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib...	ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal natural killer cell physiolo...	OMIM:613101
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Autoimmune thrombocytopenia, Recurrent bacterial ...	OMIM:613496
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R...	ORPHA:221139
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Thrombocytopenia, Decreased circulating antibody level, Leukope...	OMIM:618116
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral can...	OMIM:615607
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, Leukocytosis, BCGosis, ...	OMIM:619652
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Hepatome...	OMIM:301078
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Wiskott-Aldrich Syndrome	Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab...	OMIM:301000
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb...	ORPHA:911
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ...	OMIM:615468
Primary Intestinal Lymphangiectasia	Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating...	ORPHA:90362
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 104	Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Lymphadenopa...	OMIM:608971
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O...	ORPHA:83471
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Decreased circulating IgG level	OMIM:152800
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom...	OMIM:613011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c...	OMIM:616576
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat...	OMIM:300635
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent he...	ORPHA:183675
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r...	OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Decreased circulating total I...	OMIM:612301
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections	OMIM:614102
Boutonneuse Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia	ORPHA:83313
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Lymphadenopathy	OMIM:616126
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Patent ductus arteriosus, Recurrent infections	ORPHA:99811
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin...	ORPHA:443811
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T...	OMIM:603554
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Death in infancy, Splenomegaly, Decreased circulating antibo...	OMIM:300972
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi...	OMIM:304790
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 40	Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia...	OMIM:616433
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Abnormality of neutrophils, Decrea...	ORPHA:2268
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Decreased...	OMIM:620040
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Recurrent ear infectio...	ORPHA:79124
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Cryptorchidism, Recurrent infections	OMIM:616910
Immunodeficiency 68	Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor...	OMIM:612260
Specific Granule Deficiency 2	Absent neutrophil specific granules, Death in infancy, Recurrent pneumonia, Neutropenia, Sepsis, ...	OMIM:617475
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Netherton Syndrome	Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level	OMIM:256500
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG...	OMIM:226990
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:100025
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e...	OMIM:618806
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Ataxia-Telangiectasia	Recurrent respiratory infections, Polycystic ovaries, Decreased circulating antibody level, Lymph...	ORPHA:100
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunoneurologic Disorder, X-Linked	Neonatal death, Decreased circulating IgG2 level	OMIM:300076
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia, Recurrent infections	ORPHA:251009
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Roifman Syndrome	Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Lymp...	ORPHA:353298
Immunodeficiency 66	Defective T cell proliferation, Meningitis, Sepsis	OMIM:618847
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal...	OMIM:612840
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,...	ORPHA:90045
Lambert Syndrome	Branchial anomaly, Decreased circulating antibody level	ORPHA:1296
Griscelli Syndrome	Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Decreased circulating ant...	ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Congenital Disorder Of Glycosylation, Type Ig	Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent...	OMIM:607143
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur...	ORPHA:508533
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren...	OMIM:615207
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia, ...	ORPHA:33110
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Patent...	OMIM:620005
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec...	ORPHA:90363
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:615952
Macrocephaly/Autism Syndrome	Splenomegaly, Decreased circulating antibody level, Recurrent infections, Hydrocele testis, Recur...	OMIM:605309
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Xq28 (MECP2) duplication	Death in childhood, Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Recurrent infections...	OMIM:619381
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Mogs-Cdg	Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Hydroc...	ORPHA:79330
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Lymphadeni...	ORPHA:319552
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymph...	OMIM:617425
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial...	ORPHA:169090
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Decreased ...	OMIM:210900
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin...	OMIM:619750
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ...	ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula...	ORPHA:507
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection...	OMIM:612783
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Lymphocytosis	ORPHA:79087
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Agammaglobu...	ORPHA:47
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ...	ORPHA:179494
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Decreased proportion of marginal zone B cells, Au...	OMIM:619375
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ...	OMIM:608233
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Pancytopenia, Impaired T cell function, Splenomegaly, Hydrocephalus, Patent duc...	OMIM:614576
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hypocell...	OMIM:617303
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy...	OMIM:208900
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Increased circulating IgA level, Follicular hyperplasia, Recurr...	OMIM:615934
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Riddle Syndrome	Generalized lymphadenopathy, Recurrent viral infections, Recurrent pneumonia, Decreased circulati...	ORPHA:420741
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia, Thrombocytosi...	OMIM:226300
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr...	OMIM:618165
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Decreased circulating total IgM, Hydrocephalus, Annular pancreas	OMIM:618162
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar...	ORPHA:293978
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Lymphadenopat...	ORPHA:3392
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, De...	ORPHA:1572
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal...	ORPHA:540
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu...	OMIM:615966
Whim Syndrome	Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnorma...	ORPHA:51636
Ring Chromosome 21 Syndrome	Holoprosencephaly, Decreased circulating antibody level	ORPHA:1445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia	ORPHA:935
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:306400
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopenia, Abnormal...	OMIM:242900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE...	ORPHA:37042
Vici Syndrome	Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Decreased circulating ...	OMIM:242840
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Abnormal immunoglobulin level	ORPHA:3162
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease	OMIM:615561
Vici Syndrome	Recurrent respiratory infections, Death in infancy, Decreased circulating IgG2 level, Recurrent i...	ORPHA:1493
Smith-Kingsmore Syndrome	Cryptorchidism, Umbilical hernia, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Ebola Hemorrhagic Fever	Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	ORPHA:319218
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomega...	OMIM:612541
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Recurrent infections, Anemia, Lymphadenopathy, Increased circulating antibody level...	OMIM:617591
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor...	ORPHA:297
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Joubert Syndrome 15	Exencephaly	OMIM:614464
Alg12-Cdg	Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti...	ORPHA:79324
Mirage Syndrome	Recurrent urinary tract infections, Hydrocephalus, Sepsis, Anemia, Leukopenia, Recurrent bacteria...	OMIM:617053
Cowden Syndrome 1	Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Recurrent infections, Ovari...	OMIM:158350
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Immunodeficiency 27B	Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co...	OMIM:615978
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level...	ORPHA:723
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocyt...	OMIM:251260
Prolidase Deficiency	Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulating antibody l...	OMIM:170100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, ...	OMIM:618278
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In...	OMIM:617388
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy...	ORPHA:505248
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level	ORPHA:562639
Rift Valley Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia	ORPHA:319251
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer...	ORPHA:167
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection	OMIM:618309
Thymoma	Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli...	ORPHA:99867
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Recurrent infections,...	ORPHA:1830
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Recurre...	OMIM:603903
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Decreased circulating antibody level, Recurrent infecti...	OMIM:615688
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulat...	ORPHA:369837
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c...	ORPHA:79329
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib...	OMIM:248500
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Splenomegaly, Impaired T cell function, Recurrent candida infections	OMIM:201100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ...	ORPHA:508542
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Brucellosis	Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas...	ORPHA:1304
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulating total IgM, B...	ORPHA:83617
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin...	OMIM:613385
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le...	ORPHA:811
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Cryoglobulinemia, Monoclon...	ORPHA:33226
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Neutrophilia, Chronic lymphocytic meningitis, Microcytic anem...	ORPHA:99843
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449395
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, Decreased circ...	ORPHA:227990
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci...	ORPHA:79078
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Chronic mucocutane...	ORPHA:227982
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ...	ORPHA:228123
Trichinellosis	Increased circulating IgE level	ORPHA:863
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Recurrent pneumonia, Decreased circulating IgA level, Recurrent infections	OMIM:613327
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev...	ORPHA:77259
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm...	ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Recurrent ...	OMIM:615895
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Recurrent infections, Hyp...	ORPHA:84064
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat...	ORPHA:99829
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level, Sepsis, Anemia, Recurrent infections	ORPHA:79396
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Decreased circulating IgA level	ORPHA:457485
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In...	OMIM:260920
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent bacterial infections, Meningitis	ORPHA:36412
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase...	ORPHA:99827
Liver Failure, Infantile, Transient	Death in infancy, Decreased circulating IgG level	OMIM:613070
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Hi...	ORPHA:171
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level	OMIM:212750
Say-Barber-Miller Syndrome	Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased...	ORPHA:3132
Primary Sjögren Syndrome	Normocytic anemia, Parotitis, Decreased circulating antibody level, Lymphadenopathy, Leukopenia, ...	ORPHA:289390
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Death in childhood, Thrombocytosis, Decreased circulating IgG level, Decreased ...	OMIM:212065
Autoimmune Hepatitis	Splenomegaly, Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Miscarriage, Increased circulating antibody level	ORPHA:86816
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Recurrent infections, Umbilical hernia	OMIM:192430
Simpson-Golabi-Behmel Syndrome	Splenomegaly, Increased circulating IgE level, Polysplenia	ORPHA:373
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Hennekam Syndrome	Recurrent respiratory infections, Splenomegaly, Lymphadenopathy, Decreased circulating antibody l...	ORPHA:2136
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Hydrocephalus, ...	ORPHA:244
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Recurrent upper respiratory tract infections, Death in infancy, Decreased circula...	OMIM:618183
Cystic Echinococcosis	Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess	ORPHA:400
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Dubowitz Syndrome	Aplastic anemia, Cryptorchidism, Recurrent infections, Acute lymphoblastic leukemia, Decreased ci...	OMIM:223370
Distal Deletion 19P	Umbilical hernia, Decreased circulating antibody level	ORPHA:96129
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp...	OMIM:610377
Trichothiodystrophy 1, Photosensitive	Death in infancy, Decreased circulating IgG level, Recurrent infections	OMIM:601675
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Eosinophilia, Spina bifida, Pancreatic cysts, Thrombocytopenia, Leukocytosis, P...	OMIM:274000
Trichothiodystrophy	Recurrent bronchopulmonary infections, Cryptorchidism, Increased mean corpuscular hemoglobin conc...	ORPHA:33364
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Recurrent bacterial in...	OMIM:232220
Postinfectious Vasculitis	Viral hepatitis, Persistent human papillomavirus infection, Increased circulating IgA level, Seve...	ORPHA:48435
Okur-Chung Neurodevelopmental Syndrome	Umbilical hernia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased cir...	OMIM:617062
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosplenomegaly, Decr...	ORPHA:470
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Neutropenia, Anemia, Spinal dysraphism	ORPHA:175
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Secondary growth hormone defic...	ORPHA:1600
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia...	OMIM:607944
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia, Neoplasm of the pancreas, Recurrent viral infections	ORPHA:2959
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Caudal Duplication	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:1756
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Large placenta, Decreased circulating antibody leve...	OMIM:222470
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ...	ORPHA:2298
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp...	OMIM:301074
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Parotitis	ORPHA:449427
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Parotitis, Increased circulating interleukin 8...	OMIM:256040
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Infectious encephalitis	ORPHA:2481
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia	ORPHA:2905
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An...	ORPHA:284
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation	OMIM:611134
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Medias...	OMIM:181000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Patent ductus arteriosus, Spina bifida	ORPHA:1120
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Wildervanck Syndrome	Meningocele	ORPHA:3456
Meckel Syndrome, Type 2	Encephalocele, Bile duct proliferation, Meningocele, Anencephaly	OMIM:603194
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci...	OMIM:619472
Chromomycosis	Recurrent bacterial infections, Lymphangiectasis	ORPHA:182
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:77261
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function, Recurrent viral infections	OMIM:176690
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess, M...	OMIM:600145
Q Fever	Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Granuloma, Increased circulating antibody lev...	ORPHA:781
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Digeorge Syndrome	Parathyroid agenesis, Impaired T cell function, Thrombocytopenia, Splenomegaly, Recurrent pneumon...	OMIM:188400
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Hypoplastic nipples, Spina bifida occulta	ORPHA:2437
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Chronic neutropenia, Hepatocellular adenoma, Recurrent bacterial infections, Hepato...	ORPHA:79259
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Euthy...	ORPHA:64744
Al Amyloidosis	Howell-Jolly bodies, Increased circulating antibody level, Anemia	ORPHA:85443
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Anemia, Decreased circulating antibody level	ORPHA:247598
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Jacobsen Syndrome	Recurrent respiratory infections, Death in infancy, Spina bifida, Cryptorchidism, Bone marrow hyp...	ORPHA:2308
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus	ORPHA:2176
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Impaired T cell function, Spina bifida, Splenomegaly, Hydrocephalus, Meningoc...	ORPHA:567
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele	OMIM:614424
Scleromyxedema	Paraproteinemia	ORPHA:167635
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia	ORPHA:2237
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Meningocele, Spina bifida occulta, Cryptorchidism	ORPHA:2311
Amish Lethal Microcephaly	Death in infancy, Spina bifida	ORPHA:99742
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Hypopituitarism	ORPHA:1827
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Patent ductus arteriosus, Spina bifida	ORPHA:99776
Lateral Meningocele Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia	OMIM:130720
Lathosterolosis	Thrombocytopenia, Meningocele, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Cerebrocostomandibular Syndrome	Death in infancy, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly	ORPHA:1393
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Meningocele, Recurrent respiratory infections, Supernumerary nipple	ORPHA:397715
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Throm...	OMIM:615846
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Spina bifida, Cry...	ORPHA:84
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Abnormality of the spleen, Meningocele, Abnormal t...	ORPHA:991
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Trisomy 20P	Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism	ORPHA:261318
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, Cryptorchidism	ORPHA:2789
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul...	ORPHA:99826
Sponastrime Dysplasia	Recurrent pneumonia, Neutropenia, Decreased circulating antibody level	ORPHA:93357
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Fibular Hemimelia	Thrombocytopenia, Spina bifida	ORPHA:93323
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Recurrent pneumonia, Spina bifida, Cryptorchidism	OMIM:234100
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom...	ORPHA:91500
Trisomy 18	Cryptorchidism, Anencephaly, Holoprosencephaly, Spina bifida	ORPHA:3380
Gaucher Disease	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:355
Phakomatosis Pigmentokeratotica	Cryptorchidism, Pheochromocytoma, Spina bifida	ORPHA:2874
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Focal Dermal Hypoplasia	Umbilical hernia, Patent ductus arteriosus, Spina bifida	ORPHA:2092
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt...	ORPHA:363958
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Neu-Laxova Syndrome 2	Spina bifida	OMIM:616038
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Neu-Laxova Syndrome	Spina bifida	ORPHA:2671
Rubinstein-Taybi Syndrome 1	Accessory spleen, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosu...	OMIM:180849
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Patent ductus arteriosus after birth at term, Secretory IgA deficiency, Recur...	ORPHA:500150
Lumbar Syndrome	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:83628
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida	OMIM:109400
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Neu-Laxova Syndrome 1	Spina bifida, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small p...	OMIM:256520
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections, Spinal dysraphism, Rec...	OMIM:114290
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Aicardi Syndrome	Recurrent pneumonia, Spina bifida	OMIM:304050
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly	OMIM:616546
Arima Syndrome	Occipital meningocele, Anemia	OMIM:243910
Parenteral Nutrition-Associated Cholestasis	Abnormality of cytokine secretion	ORPHA:567983
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma	OMIM:162200
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida	ORPHA:508498
Phocomelia, Schinzel Type	Cryptorchidism, Meningocele	ORPHA:2879
Orofaciodigital Syndrome Vi	Occipital meningocele	OMIM:277170
Mowat-Wilson Syndrome	Asplenia, Cryptorchidism, Patent ductus arteriosus, Decreased circulating antibody level, Recurre...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Cryptorchidism, Decreased circulating antibody level, Recurrent infections, Hydrocele t...	ORPHA:261537
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bifida	OMIM:619480
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Cryptorchidism, Patent ductus arteriosus, Decreased circulating antibody level, Recurre...	ORPHA:261552
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta	OMIM:267750
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia	ORPHA:642
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Marfan Syndrome	Meningocele	ORPHA:558
Otopalatodigital Syndrome, Type Ii	Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia	OMIM:304120
Vater/Vacterl Association	Occipital encephalocele, Patent ductus arteriosus, Spina bifida, Patent urachus	OMIM:192350
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Hypoplastic nipples, Cryptorchidism	OMIM:276820
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Testicular Germ Cell Tumor		OMIM:273300
Mesothelioma, Malignant		OMIM:156240
Lymphoma, Mucosa-Associated Lymphoid Type		OMIM:137245
Lymphoma, Non-Hodgkin, Familial		OMIM:605027

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 Bcl10

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 Bcl10.

No publications found that use IMPC mice or data for Bcl10.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Bcl10^{tm290928(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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