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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
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
Kawasaki Disease