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 |
|