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Gene: Jchain MGI:96493

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

immunoglobulin joining chain

Synonyms:

9530090F24Rik, J chain, Igj, Jch

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 Jchain 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 Jchain (0 diseases)
Human diseases predicted to be associated with Jchain (538 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c...	OMIM:616452
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib...	OMIM:616911
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy...	OMIM:618987
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased circulating antibody level	OMIM:235900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,...	OMIM:618944
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunoglobulin A Deficiency 1	Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina...	OMIM:137100
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Complement Component 6 Deficiency	Recurrent meningococcal disease, Reduced circulating CH50 activity, Decreased circulating complem...	OMIM:612446
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:607594
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Tuftsin Deficiency	Recurrent infections	OMIM:191150
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt...	OMIM:619281
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Complement Factor D Deficiency	Partial functional complement factor D deficiency, Recurrent bacterial infections	OMIM:613912
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm...	ORPHA:169079
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Complement Component 8 Deficiency, Type Ii	Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections	OMIM:613789
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C...	ORPHA:98813
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Disseminated molluscum contagiosum, Eosinophilia, Severe cytomeg...	OMIM:617638
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased...	OMIM:312863
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent...	OMIM:613953
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran...	OMIM:607676
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe...	ORPHA:2688
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	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ...	OMIM:608184
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening...	OMIM:616740
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Immunodeficiency 48	Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ...	OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c...	OMIM:614878
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect...	OMIM:614102
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections	OMIM:619693
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs...	OMIM:243700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Immunodeficiency 20	Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent otitis m...	OMIM:615707
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia...	ORPHA:572
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe...	OMIM:620632
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease...	OMIM:615767
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased cir...	OMIM:614470
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Recurrent lower respir...	OMIM:300755
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:277
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun...	OMIM:601457
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,...	ORPHA:443811
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Hypoplasi...	OMIM:612782
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au...	ORPHA:331235
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ...	OMIM:102700
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi...	OMIM:267500
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in...	OMIM:616576
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno...	ORPHA:2585
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly...	ORPHA:397596
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ...	ORPHA:436159
Wiskott-Aldrich Syndrome	Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lymphopenia, Decrea...	OMIM:301000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio...	OMIM:618116
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R...	OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Dec...	OMIM:616910
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a...	OMIM:620565
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit...	ORPHA:90003
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Complement Factor H Deficiency	Recurrent bacterial infections, Decreased circulating complement factor H concentration, Depletio...	OMIM:609814
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr...	OMIM:600802
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia, Decreased circulating...	OMIM:613779
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Angiostrongyliasis	Unusual CNS infection, Hypereosinophilia, Increased circulating specific IgE antibody, Increased ...	ORPHA:74
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ...	OMIM:615468
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci...	OMIM:606367
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level	OMIM:615872
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ...	ORPHA:183675
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Lymphopenia, Leukopenia, Increased circulating IgA level, Throm...	OMIM:615934
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
Reticular Dysgenesis	Sepsis, Recurrent respiratory infections, Leukopenia, Anemia, Abnormality of neutrophils, Decreas...	ORPHA:33355
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Recurrent infections, Transient hypogammaglobulinemia of infancy	OMIM:251240
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive...	ORPHA:83471
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia	OMIM:616395
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningitis, Lymphopenia, D...	ORPHA:90362
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In...	OMIM:617388
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Iir	Recurrent infections, Decreased circulating antibody level, Decreased proportion of CD4-positive ...	OMIM:301045
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti...	OMIM:617780
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Pa...	OMIM:307200
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ...	OMIM:620532
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Recurrent respiratory infections, Pancytopenia, Splenomegaly, ...	OMIM:300635
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle...	ORPHA:319552
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Complement Factor B Deficiency	Recurrent bacterial infections, Decreased circulating complement factor B concentration, Recurren...	OMIM:615561
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurrent respiratory infections, Panhypog...	OMIM:615207
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Hyper-Igd Syndrome	Recurrent infections, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incr...	OMIM:260920
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating IgA level, Anemia, Decreased circulating t...	OMIM:620040
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ...	OMIM:613179
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections	OMIM:300299
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Eosinophilia, Recurrent respiratory infe...	OMIM:618523
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Reduced circulating CH50 activi...	OMIM:609536
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Postinfectious Vasculitis	Recurrent mycobacterial infections, Abnormality of humoral immunity, Invasive fungal infection, P...	ORPHA:48435
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodeficiency 17	Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit...	OMIM:615607
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal...	ORPHA:186
Immunodeficiency 32B	BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis	OMIM:616069
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto...	ORPHA:90045
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent...	ORPHA:79124
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Bloom Syndrome	Decreased circulating IgG level, Severe varicella zoster infection, Recurrent tonsillitis, Recurr...	ORPHA:125
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice, Impaired neutrophil ba...	OMIM:613470
Maternal Uniparental Disomy Of Chromosome 1	Recurrent infections, Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest...	ORPHA:486
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circulating antibody ...	OMIM:615952
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev...	OMIM:242860
Icf Syndrome	Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ...	ORPHA:2268
Autosomal Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Meningitis, Recurrent ...	ORPHA:33110
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto...	ORPHA:79330
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Ataxia-Telangiectasia	Lymphopenia, Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:100
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula...	ORPHA:90363
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Recurrent infections, Decreas...	ORPHA:329918
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre...	OMIM:608233
Netherton Syndrome	Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ...	OMIM:256500
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr...	OMIM:617475
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr...	ORPHA:2137
Omenn Syndrome	Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu...	OMIM:603554
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections...	OMIM:603585
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, Herpes simplex encephalitis, Complete or ne...	OMIM:233600
Good Syndrome	Recurrent urinary tract infections, Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Recu...	ORPHA:169105
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Roifman Syndrome	Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Eosinophilia, Decreased circulat...	ORPHA:353298
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease...	OMIM:210900
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Riddle Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased circu...	ORPHA:420741
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc...	OMIM:618131
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Recurrent infections, Decreased circulating an...	OMIM:605309
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	OMIM:619381
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Meningiti...	ORPHA:47
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le...	ORPHA:2298
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se...	ORPHA:293978
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumonia	OMIM:619750
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Severe in...	OMIM:304790
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol l...	ORPHA:97283
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis, Increased ...	ORPHA:723
Prolidase Deficiency	Recurrent pneumonia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia...	OMIM:170100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia, Recurrent lower respiratory tract infections, Rec...	OMIM:226300
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i...	OMIM:306400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f...	ORPHA:169090
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b...	OMIM:612840
Netherton Syndrome	Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu...	ORPHA:634
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu...	OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ...	OMIM:256040
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane...	OMIM:242840
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi...	ORPHA:540
Ebola Hemorrhagic Fever	Sepsis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia	ORPHA:319218
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Recurrent respiratory infections	ORPHA:935
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Severe infection, Leukocytosis	ORPHA:206594
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci...	ORPHA:79078
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom...	OMIM:620376
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recurr...	OMIM:617591
Griscelli Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neutrophi...	ORPHA:381
Zika Virus Disease	Meningitis, Increased circulating IgM level, Thrombocytopenia, Infectious encephalitis	ORPHA:448237
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re...	OMIM:116920
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Alg12-Cdg	Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Complete or near-complete absence of...	ORPHA:79324
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Common Variable Immunodeficiency	Lymphopenia, Decreased circulating antibody level, Splenomegaly, Recurrent bronchitis, Recurrent ...	ORPHA:1572
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Recurrent infections, Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Vici Syndrome	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgG2 level, Recurren...	ORPHA:1493
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni...	OMIM:214500
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti...	ORPHA:231154
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia...	OMIM:242900
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl...	OMIM:248500
Aspergillosis	Unusual CNS infection, Increased circulating IgE level, Invasive pulmonary aspergillosis, Infecti...	ORPHA:1163
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno...	ORPHA:167
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Hypersplenism, Portal hypert...	OMIM:613385
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis	OMIM:235700
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Leukemia, Pure ...	ORPHA:99867
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Nausea, ...	ORPHA:100086
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Recurrent bro...	OMIM:617303
Immunodeficiency 68	Sepsis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent meningitis, T l...	OMIM:612260
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop...	OMIM:612541
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Recurrent respiratory infections, Eosinophilia, Recurrent infect...	ORPHA:2314
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Incr...	ORPHA:811
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice	OMIM:266200
Lipodystrophy, Congenital Generalized, Type 4	Recurrent infections, Decreased circulating IgA level, Recurrent pneumonia, Splenomegaly	OMIM:613327
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Igg4-Related Submandibular Gland Disease	Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating ...	ORPHA:449432
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp...	OMIM:614576
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio...	OMIM:617053
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Reduced circulating complement concentration, Splenomegaly, Menin...	ORPHA:36412
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of...	OMIM:619573
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hype...	ORPHA:284
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepat...	OMIM:212065
Celiac Disease, Susceptibility To, 1	Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Decreased circulatin...	OMIM:212750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S...	OMIM:620367
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopeni...	OMIM:615688
Cowden Syndrome 1	Lymphopenia, Recurrent infections, Decreased circulating antibody level	OMIM:158350
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma...	ORPHA:2869
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Mevalonic Aciduria	Recurrent infections, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopeni...	OMIM:610377
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai...	ORPHA:79329
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Rift Valley Fever	Severe viral infection, Infectious encephalitis, Thrombocytopenia, Anemia, Increased circulating ...	ORPHA:319251
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Hyperhidrosis	ORPHA:349
Igg4-Related Thyroid Disease	Graves disease, Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis, ...	ORPHA:64744
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,...	ORPHA:2968
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Hypersplenism, Hepatosplenomegaly, Portal hy...	ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Hepatosplenomegaly, Elliptocyt...	OMIM:618278
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent infections, Sepsis, Increased circulating IgE level, Autoimmune hemolytic anemia, Splen...	ORPHA:37042
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Recurrent respiratory infections	OMIM:615508
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Sepsis, Hepatosplenomegaly, Leukope...	ORPHA:505248
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr...	ORPHA:227990
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ...	ORPHA:470
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Recurrent urinary tract infections, Microcytic anemia, Recurrent otitis medi...	ORPHA:99843
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Decreased circulating IgA level, Recurrent infe...	OMIM:223370
Kenny-Caffey Syndrome, Type 1	Anemia, Recurrent bacterial infections	OMIM:244460
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Igg4-Related Kidney Disease	Decreased liver function, Increased circulating IgE level, Increased circulating IgG4 level, Redu...	ORPHA:449395
Tick-Borne Encephalitis	Unusual CNS infection, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thr...	ORPHA:297
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Recurrent infections, Decreased circulating antibody level, Sepsis	ORPHA:79396
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur...	ORPHA:77261
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc...	OMIM:147060
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:3376
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Decreased circulating antibody level	OMIM:618183
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr...	ORPHA:227982
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Primary Sjögren Syndrome	Normocytic anemia, Reduced circulating complement concentration, Lymphopenia, Decreased circulati...	ORPHA:289390
Japanese Encephalitis	Infectious encephalitis, Increased circulating antibody level, Neutrophilia, Meningitis, Increase...	ORPHA:79139
Scleromyxedema	Paraproteinemia	ORPHA:167635
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the liver, Increased circu...	ORPHA:85443
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Glycogen Storage Disease Xii	Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen...	OMIM:611881
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Poems Syndrome	Splenomegaly, Thrombocytosis, Polycythemia, Increased circulating antibody level	ORPHA:2905
Syndromic Diarrhea	Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Re...	ORPHA:84064
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ...	ORPHA:244
Triosephosphate Isomerase Deficiency	Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections	OMIM:615895
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Increased circulating antibo...	ORPHA:1560
Coccidioidomycosis	Unusual CNS infection, Granuloma, Invasive fungal infection, Abnormality of the spleen, Abscess, ...	ORPHA:228123
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Diarrhea, Parotitis, Adrenal insufficiency, Cholecystitis, Splenomegaly, Orchiti...	ORPHA:99827
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Hennekam Syndrome	Lymphopenia, Recurrent respiratory infections, Decreased circulating antibody level, Splenomegaly	ORPHA:2136
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Neutropenia, Recur...	ORPHA:33364
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Infectious encephalitis, Lung a...	ORPHA:1304
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Aicardi-Goutieres Syndrome 7	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur...	OMIM:615846
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Bowel incontinence, Cholecystitis	ORPHA:309271
Trichohepatoenteric Syndrome 1	Thrombocytosis, Decreased circulating antibody level, Splenomegaly, Increased mean platelet volume	OMIM:222470
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia	ORPHA:449427
Cartilage-Hair Hypoplasia	Anemia, Decreased circulating antibody level, Neutropenia	ORPHA:175
Vacterl/Vater Association	Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:887
Listeriosis	Vomiting, Diarrhea, Cholecystitis, Nausea, Peritonitis, Hepatic granulomatosis, Splenic abscess, ...	ORPHA:533
Glycogen Storage Disease Ib	Recurrent bacterial infections, Splenomegaly, Neutropenia	OMIM:232220
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Chronic constipation, Hepatomegaly	OMIM:301066
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Yellow Fever	Opportunistic infection, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inte...	ORPHA:99829
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	ORPHA:98908
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Anemia, Hepatosplenomegaly, Decreased circulating antibody level	ORPHA:247598
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Cystic Fibrosis	Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci...	ORPHA:586
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a...	OMIM:274000
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level	OMIM:181000
Rett Syndrome	Cholecystitis	ORPHA:778
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Recurrent bacterial infections	ORPHA:79259
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,...	ORPHA:355
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Prostatitis, Pancrea...	ORPHA:449563
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Gastroesophageal reflux	ORPHA:818
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Kawasaki Disease	Jaundice, Diarrhea, Hepatitis, Cholecystitis	ORPHA:2331
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abdominal situs inversus	ORPHA:280
Sponastrime Dysplasia	Recurrent pneumonia, Decreased circulating antibody level, Neutropenia	ORPHA:93357
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis,...	ORPHA:774
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections	ORPHA:2273
Gaisböck Syndrome	Cholecystitis	ORPHA:90041
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Recurrent infections, Secretory IgA deficiency	ORPHA:500150
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of humoral immunity, Abscess, Tooth abscess, Anemia, Recurrent Staphylococcus aureus ...	ORPHA:642
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Asplenia, Recurrent infections, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Recurrent otitis media, Asplenia, Recurrent infections, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Asplenia, Recurrent infections, Decreased circulating antibody level	ORPHA:261552

Histopathology

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

There is no histopathology data for Jchain

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 Jchain.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genetic timestamping of plasma cells in vivo reveals tissue-specific homeostatic population turnover.	eLife (November 2020)	Jchain^{tm1a(KOMP)Wtsi}	PMC7682985

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
Jchain^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Jchain^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Jchain^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Jchain^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Jchain^{tm96617(L1L2_Pgk_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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