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 (530 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 Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ...	OMIM:242870
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,...	OMIM:613500
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ...	OMIM:615897
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613494
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ...	OMIM:613493
Candidiasis, Familial, 4	Recurrent vulvovaginal candidiasis, Onychomycosis	OMIM:613108
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
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
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym...	OMIM:247630
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,...	OMIM:308220
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:613502
Immunodeficiency 53	Recurrent infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:617585
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ...	OMIM:618987
Immunodeficiency 33	Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,...	OMIM:300636
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,...	OMIM:612692
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly	OMIM:606445
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma...	OMIM:613501
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina...	OMIM:616941
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren...	OMIM:605258
Immunodeficiency 11	Decreased circulating antibody level, Recurrent respiratory infections	OMIM:615206
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia	OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 44	Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati...	OMIM:616636
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections	OMIM:616911
Monocyte and dendritic cell deficiency, autosomal recessive	Recurrent infections	OMIM:614894
Immunodeficiency 50	Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni...	OMIM:300988
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l...	OMIM:618944
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr...	OMIM:611521
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt...	OMIM:233650
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level, Recurrent infections	OMIM:235900
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g...	OMIM:609529
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease...	OMIM:608106
Immunodeficiency 25	Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Complete or near-com...	OMIM:610163
Immunodeficiency 86	Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch...	OMIM:300400
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti...	OMIM:607271
Complement Component 6 Deficiency	Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen...	OMIM:612446
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level, Recurrent infections	OMIM:614102
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619924
Tuftsin Deficiency	Recurrent infections	OMIM:191150
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre...	OMIM:618534
Complement Component 7 Deficiency	Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Immunodeficiency 18	Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D...	OMIM:615615
Cernunnos-Xlf Deficiency	Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ...	ORPHA:169079
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Immunodeficiency 61	Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr...	OMIM:300310
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Neutrophil...	OMIM:619281
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:859
Immunodeficiency 14A, Autosomal Dominant	Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,...	OMIM:615513
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf...	OMIM:137100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level...	ORPHA:169154
Immunodeficiency 102	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym...	OMIM:301082
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop...	OMIM:616873
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Secretory Component Deficiency	Secretory IgA deficiency, Chronic intestinal candidiasis	OMIM:269650
Complement Factor D Deficiency	Complement deficiency, Recurrent bacterial infections	OMIM:613912
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si...	OMIM:618969
Immune Deficiency Disease	Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections	OMIM:242850
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 95	Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections...	OMIM:619773
Complement Component 8 Deficiency, Type Ii	Meningitis, Decreased serum complement C8, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E...	OMIM:202700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M...	OMIM:153600
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu...	OMIM:618261
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio...	OMIM:619774
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur...	ORPHA:331206
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat...	OMIM:212050
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Eos...	OMIM:243700
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re...	OMIM:615139
Immunodeficiency With Hyper-Igm, Type 1	Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l...	OMIM:308230
Whim Syndrome 1	Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac...	OMIM:193670
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ...	OMIM:300291
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Recurrent bacterial infections, ...	OMIM:618048
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei...	OMIM:310350
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619510
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec...	OMIM:618982
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Rec...	OMIM:615285
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome...	OMIM:619220
Immunodeficiency 32A	Recurrent infections	OMIM:614893
Immunodeficiency 37	Recurrent infections, Decreased proportion of central memory CD4-positive, alpha-beta T cells, De...	OMIM:616098
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l...	OMIM:613953
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac...	ORPHA:70593
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency 52	Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen...	OMIM:617514
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur...	ORPHA:70592
Immunodeficiency 48	Recurrent candida infections, Splenomegaly, Panhypogammaglobulinemia, Absence of CD8-positive T c...	OMIM:269840
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe...	OMIM:608184
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc...	OMIM:245480
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Immunodeficiency 36	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu...	OMIM:616005
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir...	ORPHA:35078
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o...	OMIM:240500
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig...	OMIM:607676
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor...	OMIM:614878
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Intermittent ...	OMIM:616740
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ...	OMIM:614868
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Mannose-Binding Lectin Deficiency	Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr...	OMIM:614372
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Severe r...	ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase...	ORPHA:169160
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Immunodeficiency, Common Variable, 10	Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h...	OMIM:615577
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr...	OMIM:616100
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Cirrhosis, Familial	Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m...	OMIM:616022
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R...	ORPHA:275
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	OMIM:251190
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopeni...	OMIM:601457
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren...	OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl...	ORPHA:572
Immunodeficiency 20	Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R...	OMIM:615707
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Recurrent opp...	ORPHA:277
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Agammaglobulinemia 1, Autosomal Recessive	Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre...	OMIM:601495
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Decreased ...	OMIM:619802
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased...	OMIM:613496
Immunodeficiency 84	Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV...	OMIM:619437
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased...	OMIM:615767
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Agammaglobulinemia, X-Linked	Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulating IgA level, Pyoderma, ...	OMIM:300755
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Splenomegaly, Absent s...	OMIM:102700
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Selective Igm Deficiency	Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,...	ORPHA:331235
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen...	ORPHA:217390
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Impaired T cell function,...	OMIM:267500
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral...	ORPHA:443811
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections	OMIM:617014
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Recurrent infections	OMIM:614069
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decreased circulating an...	OMIM:618108
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportion of CD8...	OMIM:614493
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:600903
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet function, Abno...	ORPHA:2585
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Recurrent infections	ORPHA:99811
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pneumonia,...	OMIM:616576
Cd8 Deficiency, Familial	Recurrent viral infections, Recurrent bacterial infections, Absence of CD8-positive T cells, Recu...	OMIM:608957
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Decreased seru...	OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat...	OMIM:600802
Wiskott-Aldrich Syndrome	Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci...	OMIM:301000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir...	ORPHA:90003
Lymphoproliferative Syndrome 2	EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Sple...	OMIM:615122
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:275350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Complement Factor H Deficiency	Decreased serum complement factor H, Recurrent bacterial infections, Depletion of components of t...	OMIM:609814
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly,...	OMIM:613101
Complement Component 3 Deficiency, Autosomal Recessive	Decreased serum complement C3, Recurrent bacterial infections, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar...	ORPHA:183675
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Decreased circulating antibody level, Recurrent respiratory infections, Splenomegaly	OMIM:618042
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Macrocephaly/Autism Syndrome	Splenomegaly, Decreased circulating antibody level, Recurrent infections, Lymphopenia	OMIM:605309
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG level, Recurrent otit...	OMIM:618495
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Angiostrongyliasis	Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase...	ORPHA:74
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Lymphopenia, Leukopenia, Increased circulating IgG level, Thromb...	OMIM:615934
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Reticular Dysgenesis	Sepsis, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Rec...	ORPHA:33355
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ...	OMIM:147060
Gallbladder Disease 1	Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ...	OMIM:600803
Thymic Aplasia	Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren...	ORPHA:83471
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc...	OMIM:613860
Thrombocytopenia 1	Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int...	OMIM:313900
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Mu-Heavy Chain Disease	Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Iga Pemphigus	Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Trichothiodystrophy 3, Photosensitive	Neutropenia, Increased circulating IgA level, Recurrent infections, Lymphopenia	OMIM:616395
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ...	OMIM:301045
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia...	OMIM:617388
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Recurrent respiratory infections	ORPHA:2571
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Opportunistic infe...	ORPHA:90362
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas...	ORPHA:319552
Lymphoproliferative Syndrome, X-Linked, 2	Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Recurrent ...	OMIM:300635
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary...	OMIM:307200
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro...	OMIM:613179
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Panhypogammaglobulinemia, Recurrent sinusitis,...	OMIM:615207
Immunodeficiency 98 With Autoinflammation, X-Linked	Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytosis, Splenom...	OMIM:301078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections	OMIM:616910
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections, Decreased serum comp...	OMIM:615561
Immunodeficiency 21	Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi...	OMIM:614172
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Primary Biliary Cholangitis	Increased circulating IgA level, Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Biliary ci...	ORPHA:186
Hyper-Igd Syndrome	Chronic oral candidiasis, Increased circulating IgA level, Neutrophilia, Splenomegaly, Leukocytos...	OMIM:260920
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm...	ORPHA:3261
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Alopecia Antibody Deficiency	Decreased circulating antibody level, Recurrent respiratory infections	ORPHA:1006
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:620040
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased...	OMIM:613011
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Hepatomegaly, Peritonitis, Diarrhea, Intestinal obstruction, Rec...	ORPHA:343
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Cystic Fibrosis	Decreased circulating antibody level, Recurrent respiratory infections	ORPHA:586
Immunodeficiency 47	Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacteri...	OMIM:300972
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Complement Component 5 Deficiency	Reduced hemolytic complement activity, Recurrent meningococcal disease, Recurrent Neisserial infe...	OMIM:609536
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ...	OMIM:602450
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia, Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis...	OMIM:618523
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections	OMIM:241600
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:612301
Postinfectious Vasculitis	Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum...	ORPHA:48435
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Immunodeficiency 23	Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Severe varicell...	OMIM:615816
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Simple Cryoglobulinemia	Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro...	ORPHA:91139
Immunodeficiency 17	Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, T lymphoc...	OMIM:615607
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ...	OMIM:615518
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Omenn Syndrome	Recurrent fungal infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thym...	OMIM:603554
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Recurrent urinary tract infections, Decreased circulating ant...	ORPHA:90045
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur...	OMIM:233710
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Anemia, Hepatosplenomegaly, Panhypogammaglobulinemia, Thrombocytopenia...	ORPHA:79124
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula...	ORPHA:29073
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Bloom Syndrome	Recurrent gastroenteritis, Decreased circulating IgA level, Abnormal proportion of CD8-positive T...	ORPHA:125
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur...	OMIM:233690
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Complement Factor I Deficiency	Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser...	OMIM:610984
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Cholecystitis, Pigment g...	OMIM:613470
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Recurrent infections, Panhypogammaglobulinemia	ORPHA:251009
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Vici Syndrome	Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec...	OMIM:242840
Autosomal Dominant Severe Congenital Neutropenia	Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent bacterial infections, E...	ORPHA:486
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Recurrent upper respiratory tract infection...	OMIM:615952
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Icf Syndrome	Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Recurrent ...	ORPHA:2268
Ataxia-Telangiectasia	Decreased circulating antibody level, Recurrent respiratory infections, Lymphopenia	ORPHA:100
Autosomal Agammaglobulinemia	Sepsis, Meningitis, Recurrent infections, Neutropenia, Agammaglobulinemia, Recurrent respiratory ...	ORPHA:33110
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Neutropenia, Chronic oral candidiasis, Splenomegaly, Recurrent ...	OMIM:608233
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Recurrent infections, Hypereosi...	OMIM:256500
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:79330
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat...	ORPHA:90363
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Sepsis, Recurrent upper respiratory tract infections, Severe B lymphocytopenia, Autoimmune thromb...	ORPHA:293978
C3 Glomerulopathy	Decreased serum complement C3, Decreased serum complement C4, Recurrent infections, Paraproteinemia	ORPHA:329918
Specific Granule Deficiency 2	Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurrent pneumonia, Recur...	OMIM:617475
Leishmaniasis	Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P...	ORPHA:507
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph...	ORPHA:508533
Immunodeficiency 59 And Hypoglycemia	Herpes simplex encephalitis, Sepsis, Recurrent upper respiratory tract infections, Recurrent lowe...	OMIM:233600
Roifman Syndrome	Hepatosplenomegaly, Eosinophilia, Decreased circulating antibody level, Recurrent pneumonia, Recu...	ORPHA:353298
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b...	OMIM:619164
Autoimmune Hepatitis	Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca...	ORPHA:2137
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt...	OMIM:620005
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:420741
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p...	OMIM:603585
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Decreased circulating antibody...	ORPHA:169105
Somatostatinoma	Neoplasm of the pancreas, Gallbladder dysfunction, Constipation, Hepatomegaly, Extrahepatic chole...	ORPHA:97283
Immunodeficiency 58	Cutaneous abscess, Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylo...	OMIM:618131
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy...	ORPHA:449400
Whim Syndrome	Lymphopenia, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections...	ORPHA:51636
Insulin-Resistance Syndrome Type B	Decreased serum complement factor B, Increased circulating IgA level, Leukopenia, Increased circu...	ORPHA:2298
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,...	OMIM:619381
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea...	OMIM:210900
Budd-Chiari Syndrome	Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Intesti...	ORPHA:131
X-Linked Agammaglobulinemia	Sepsis, Meningitis, Recurrent pneumonia, Neutropenia, Agammaglobulinemia, Anemia, Thrombocytopeni...	ORPHA:47
Tularemia	Cutaneous abscess, Increased circulating antibody level, Leukocytosis, Brain abscess, Meningitis,...	ORPHA:3392
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ...	ORPHA:169090
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level, Recurrent pneumonia	OMIM:619750
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch...	ORPHA:562639
Boutonneuse Fever	Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level	ORPHA:83313
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Decreased circulating IgG level, Recurrent infections, Neutropenia	OMIM:608809
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Increased ...	OMIM:618213
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial...	OMIM:612840
Ataxia-Telangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ...	OMIM:208900
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Splenomegaly, Granuloma, Recurrent Klebsiella infections, Re...	OMIM:306400
Trichothiodystrophy 5, Nonphotosensitive	Decreased circulating antibody level, Recurrent infections	OMIM:300953
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase...	OMIM:256040
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Subacute Inflammatory Demyelinating Polyneuropathy	Severe infection, Increased circulating IgG level, Leukocytosis	ORPHA:206594
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Autoimmune thrombocytopenia, Ne...	OMIM:304790
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections	OMIM:612783
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Recurrent infections, Recu...	ORPHA:634
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count, Chronic oral candidiasis, Pneumo...	ORPHA:723
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia	OMIM:226300
Prolidase Deficiency	Increased circulating antibody level, Splenomegaly, Recurrent pneumonia, Recurrent infections, An...	OMIM:170100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia, Recurrent respiratory infections	ORPHA:935
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Thrombocytopenia, Increased circulating IgA level, Increased ci...	ORPHA:79078
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Zika Virus Disease	Infectious encephalitis, Meningitis, Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Griscelli Syndrome	Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ...	ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Lymphopenia, Splenomegaly, Recurrent infections, Anemia, Th...	OMIM:617591
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia	OMIM:617425
Ebola Hemorrhagic Fever	Increased circulating antibody level, Lymphopenia, Sepsis, Leukopenia, Thrombocytopenia	ORPHA:319218
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level	ORPHA:69126
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Erythrocytosis, Familial, 8	Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly	OMIM:222800
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent infections, Recurren...	ORPHA:1493
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Recurrent bronchitis, D...	ORPHA:1572
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec...	OMIM:214500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Popov-Chang syndrome	Lymphopenia, Decreased circulating antibody level, Recurrent otitis media	OMIM:618428
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Decreased circulating antibody level, Vacuolated lymphocytes, Spl...	OMIM:248500
Thymic Tumor	Dysgammaglobulinemia	ORPHA:100100
Schimke Immunoosseous Dysplasia	Neutropenia, Lymphopenia, Thrombocytopenia, Abnormal immunoglobulin level, Decreased circulating ...	OMIM:242900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly	OMIM:235700
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph...	ORPHA:167
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ...	ORPHA:231154
Gallbladder Neuroendocrine Tumor	Extrahepatic cholestasis, Cholecystitis, Biliary tract obstruction, Nausea, Biliary tract neoplas...	ORPHA:100086
Mucopolysaccharidosis-Plus Syndrome	Recurrent bronchopulmonary infections, Splenomegaly, Sepsis, Leukopenia, Increased circulating Ig...	OMIM:617303
Nijmegen Breakage Syndrome	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, B lymphocy...	OMIM:251260
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Hypothyroid...	OMIM:613385
Immunodeficiency 68	Sepsis, Abscess, B lymphocytopenia, T lymphocytopenia, Recurrent meningitis, Abnormal natural kil...	OMIM:612260
Lassa Fever	Sepsis, Increased circulating IgM level	ORPHA:99824
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Decreased circulating IgA level, Leukemia	OMIM:208910
Thymoma	Abnormal lymphocyte physiology, Aplastic anemia, Decreased circulating antibody level, Abnormal l...	ORPHA:99867
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Decreased circulating total IgM	ORPHA:369837
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Splenomegaly, Sepsis, Recurrent urinary tract infections, Recurrent bacterial infect...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level	OMIM:606056
Cystic Echinococcosis	Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Peritoneal abscess...	ORPHA:400
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Neutropenia, Sepsis, Recurrent bacterial infections, Aplastic ...	ORPHA:811
Aspergillosis	Unusual CNS infection, Invasive pulmonary aspergillosis, Eosinophilia, Meningitis, Infectious enc...	ORPHA:1163
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice	OMIM:266200
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Increased circulating IgE level, Recurrent infections, Recurrent respiratory infect...	ORPHA:2314
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Abnormal pancreas morphology, Prostatitis, Complement defic...	ORPHA:449432
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Re...	OMIM:614576
Intrahepatic Cholestasis Of Pregnancy	Abnormality of the pancreas, Cholecystitis, Hypothyroidism, Elevated hepatic transaminase, Abnorm...	ORPHA:69665
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Recurrent pneumonia, Recurrent infections, Splenomegaly	OMIM:613327
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating antibody level, Recurrent respiratory infections	OMIM:607143
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Recurrent sinusitis, Pan...	OMIM:615688
Encephalitis Lethargica	Increased circulating antibody level, Recurrent viral infections	ORPHA:83600
Hypocomplementemic Urticarial Vasculitis	Complement deficiency, Meningitis, Recurrent bacterial infections, Splenomegaly	ORPHA:36412
Alveolar Echinococcosis	Increased circulating antibody level, Decreased liver function, Abnormal spleen morphology, Vomit...	ORPHA:284
Leukocyte Adhesion Deficiency	Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Leuk...	ORPHA:2968
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Steatorrhea, Diar...	OMIM:212065
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Mirage Syndrome	Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Leukopen...	OMIM:617053
Gaucher Disease Type 1	Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto...	ORPHA:77259
Cowden Syndrome 1	Decreased circulating antibody level, Recurrent infections, Lymphopenia	OMIM:158350
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail...	ORPHA:171
Peutz-Jeghers Syndrome	Vomiting, Intestinal obstruction, Abnormality of the gallbladder, Biliary tract neoplasm, Gastroi...	ORPHA:2869
Mgat2-Cdg	Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower respiratory ...	ORPHA:79329
Immunodeficiency 87 And Autoimmunity	Recurrent fungal infections, Lymphopenia, Sepsis, Recurrent bacterial infections, Thrombocytopeni...	OMIM:619573
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Steatorrhea, Diarrhea, Vomiting, Stomatitis, Elevated hepatic tr...	OMIM:212750
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Rift Valley Fever	Increased circulating IgG level, Severe viral infection, Infectious encephalitis, Increased circu...	ORPHA:319251
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Decreased circulating IgG level, Leukocytosis, Anisocytosis, H...	OMIM:618278
Igg4-Related Thyroid Disease	Graves disease, Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Hy...	ORPHA:64744
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Hyperhidrosis, Hypothyroidism	ORPHA:349
Mevalonic Aciduria	Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Normocytic hypoplastic a...	OMIM:610377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent gastroenteritis, Decreased circulating IgG level, Sepsis, Hepatosplenomegaly, Leukopeni...	ORPHA:505248
Q Fever	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cryoglobulinemia, Hepatosplenom...	ORPHA:781
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Leukocyte Adhesion Deficiency Type Ii	Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Recurrent...	ORPHA:99843
Dubowitz Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Aplastic anemia, Recurrent infe...	OMIM:223370
Tick-Borne Encephalitis	Unusual CNS infection, Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of ...	ORPHA:297
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Se...	ORPHA:37042
Sickle Cell Anemia	Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolytic anemia, Target cells, Incre...	OMIM:603903
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Autoimmune Polyendocrinopathy Type 4	Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul...	ORPHA:227990
Kenny-Caffey Syndrome, Type 1	Anemia, Recurrent bacterial infections	OMIM:244460
Gaucher Disease Type 3	Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Recur...	ORPHA:77261
Igg4-Related Kidney Disease	Decreased liver function, Prostatitis, Increased circulating IgG1 level, Pancreatitis, Decreased ...	ORPHA:449395
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Sepsis, Decreased circulating antibody level, Recurrent infections	ORPHA:79396
Lysinuric Protein Intolerance	Increased circulating antibody level, Hemophagocytosis, Complement deficiency, Recurrent bacteria...	ORPHA:470
Distal Monosomy 19P13.3	Decreased circulating antibody level	ORPHA:96129
Autoimmune Polyendocrinopathy Type 3	Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul...	ORPHA:227982
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol...	ORPHA:330015
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ...	ORPHA:3132
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Abnormality of the pancreas	ORPHA:3376
Glycogen Storage Disease Xii	Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Elevated circulating alanine aminotran...	OMIM:611881
Scleromyxedema	Paraproteinemia	ORPHA:167635
Primary Sjögren Syndrome	Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi...	ORPHA:289390
Poems Syndrome	Polycythemia, Increased circulating antibody level, Thrombocytosis	ORPHA:2905
Japanese Encephalitis	Increased circulating antibody level, Neutrophilia, Meningitis, Infectious encephalitis, Increase...	ORPHA:79139
Al Amyloidosis	Increased circulating antibody level, Hepatomegaly, Xerostomia, Dysphagia, Gastrointestinal hemor...	ORPHA:85443
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean pla...	ORPHA:84064
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Triosephosphate Isomerase Deficiency	Cholelithiasis, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ...	ORPHA:244
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Recurrent bacterial infections, Leukocytosis, Splenomegaly	OMIM:615895
Coccidioidomycosis	Unusual CNS infection, Invasive fungal infection, Abscess, Eosinophilia, Increased circulating Ig...	ORPHA:228123
Crimean-Congo Hemorrhagic Fever	Adrenal insufficiency, Melena, Hepatomegaly, Hematemesis, Hemoperitoneum, Hepatic failure, Spleno...	ORPHA:99827
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Abnormality of mesentery morphology	ORPHA:2075
Brucellosis	Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytosis, Infectio...	ORPHA:1304
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Portal hypertension, Gastrointestinal ...	ORPHA:774
Trichothiodystrophy	Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Panhy...	ORPHA:33364
Hennekam Syndrome	Lymphopenia, Decreased circulating antibody level, Recurrent respiratory infections, Splenomegaly	ORPHA:2136
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Cysticercosis	Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Splenomegaly, Recurrent lower respiratory tract infections,...	OMIM:615846
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Complement deficiency, Eosinophilia	ORPHA:449427
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Thrombocytosis, Decreased circulating antibody level, Splenomegaly	OMIM:222470
Vacterl/Vater Association	Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:887
Glycogen Storage Disease Ib	Recurrent bacterial infections, Neutropenia, Splenomegaly	OMIM:232220
Cartilage-Hair Hypoplasia	Anemia, Decreased circulating antibody level, Neutropenia	ORPHA:175
Listeriosis	Splenic abscess, Peritonitis, Diarrhea, Vomiting, Cholecystitis, Hepatic granulomatosis, Nausea, ...	ORPHA:533
Trichinellosis	Meningitis, Increased circulating IgE level	ORPHA:863
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Chronic constipation	OMIM:301066
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Opportunistic infe...	ORPHA:99829
Rett Syndrome	Cholecystitis	ORPHA:778
Thrombocytopenia-Absent Radius Syndrome	Leukocytosis, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Anemia, Thr...	OMIM:274000
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Marburg Hemorrhagic Fever	Increased circulating antibody level, Lymphopenia, Severe infection, Leukopenia, Abnormal lymphoc...	ORPHA:99826
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly, Pancytopenia	OMIM:181000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Anemia, Decreased circulating antibody level, Hepatosplenomegaly	ORPHA:247598
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Orchitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ...	ORPHA:449563
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatomegaly, Cholecystitis, Elevated hepatic transaminase, Hepatic steatosis	ORPHA:98908
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Anemia, Recurrent bacterial infections, Chronic neutropenia, Abnormal myeloid leukocyte morphology	ORPHA:79259
Gaucher Disease	Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:355
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
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