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 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm... |
OMIM:269840 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... |
ORPHA:70592 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Immunodeficiency 15A |
|
Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-po... |
OMIM:618204 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster infection, T lymp... |
OMIM:618986 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... |
OMIM:300400 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:616022 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial... |
OMIM:202700 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections |
OMIM:615206 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... |
OMIM:615615 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Candida esophagit... |
OMIM:619281 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Recurrent upper respiratory tract infectio... |
OMIM:613101 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... |
OMIM:618944 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Recurrent viral upper respiratory tract infections, Recurre... |
OMIM:615707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Secretory Component Deficiency |
|
Secretory IgA deficiency, Chronic intestinal candidiasis |
OMIM:269650 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... |
OMIM:618987 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Asthma, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hypertriglyceridemia |
OMIM:608898 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent si... |
OMIM:607271 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive... |
OMIM:617241 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... |
OMIM:301082 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Elevated circulating C-reactive protein concentration, Fulminant... |
OMIM:308240 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... |
OMIM:618982 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Abnormal circulat... |
ORPHA:829 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... |
OMIM:609529 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... |
OMIM:615559 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Myocarditis, B l... |
ORPHA:2442 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly |
OMIM:606445 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulmonary infection... |
ORPHA:486 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... |
OMIM:613953 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... |
OMIM:619374 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Pulmonary ... |
OMIM:619644 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Secundum atrial septal defect, ... |
OMIM:611926 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... |
ORPHA:169160 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Congenital Enterovirus Infection |
|
Skin rash, Hyperammonemia, Leukocytosis, Sepsis, Leukopenia, Myocarditis, Hypotension, Abnormal m... |
ORPHA:292 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... |
OMIM:601457 |
Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Pulmonary embolism, Autoimmune thrombocytopenia, Cerebral ischemia, M... |
ORPHA:3325 |
Bacterial Toxic-Shock Syndrome |
|
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... |
ORPHA:36234 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... |
OMIM:137100 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Pneumoni... |
ORPHA:276 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... |
OMIM:233650 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
OMIM:618534 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Failure to thrive, Decreased circulating IgA level, Recurrent... |
ORPHA:275 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... |
OMIM:608184 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Dec... |
OMIM:243700 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Chronic oral candidiasis, Chronic decreased cirulat... |
OMIM:615607 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Arrhythmia, Endocarditis, Myocarditis, Hypotensi... |
ORPHA:549 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, De... |
OMIM:619510 |
Q Fever |
|
Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Weight loss, Increased circulating... |
ORPHA:781 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Complete or near-com... |
OMIM:610163 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... |
OMIM:619924 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:540 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... |
ORPHA:277 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:209920 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, ... |
OMIM:617744 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... |
ORPHA:331206 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... |
OMIM:616740 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec... |
OMIM:616098 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... |
ORPHA:464343 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Whim Syndrome 2 |
|
Severe infection, Chronic neutropenia, Recurrent gingivitis |
OMIM:619407 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... |
OMIM:618261 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Decreased circulating total IgM, Recurrent upper respiratory tract ... |
OMIM:615139 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Antisynthetase Syndrome |
|
Telangiectasia of the skin, Skin rash, Elevated circulating creatine kinase concentration, Myosit... |
ORPHA:81 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... |
OMIM:616005 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Recurrent opportunistic infections, B lymphocy... |
ORPHA:35078 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pneumonia, Knee... |
ORPHA:1304 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Folliculitis, Hemophagocytosis, Recurrent ... |
OMIM:300635 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Inflammation of the large intestine, T lymphocytopenia, ... |
OMIM:618108 |
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 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Wiskott-Aldrich Syndrome |
|
Melena, Sepsis, Eczema, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed... |
OMIM:301000 |
Immune-Mediated Necrotizing Myopathy |
|
Skin rash, Raynaud phenomenon, Palpitations, Elevated circulating creatine kinase concentration, ... |
ORPHA:206569 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:618048 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Hypoxemia, Nonproductive cough, R... |
ORPHA:723 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Sinusitis, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Ab... |
ORPHA:3099 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Thrombocytopenia, Cyclic |
|
Abnormal bleeding, Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis, Recurrent infections |
OMIM:610680 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Inflammation of the large in... |
OMIM:615767 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, S... |
OMIM:616100 |
Immunoglobulin M, Level Of |
|
Meningitis, Decreased circulating total IgM |
OMIM:308250 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media |
OMIM:266265 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233690 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Sepsis, Lympha... |
ORPHA:31205 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Hypoxe... |
ORPHA:1302 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Recurrent lower r... |
OMIM:612541 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... |
OMIM:601495 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Reticular Dysgenesis |
|
Lack of T cell function, Sepsis, Impaired T cell function |
OMIM:267500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Lymphocytosis, Interstitial pneumonitis, Eosinophilia, Myocarditis, Hepatitis... |
ORPHA:139402 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Whipple Disease |
|
Splenomegaly, Anemia, Cachexia, Myositis, Myocarditis, Arthritis, Hypotension, Myocardial infarct... |
ORPHA:3452 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... |
ORPHA:217390 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 66 |
|
Sepsis, Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Anemia, Sepsis, Leukopenia, Chronic otitis media, Abnormality of ne... |
ORPHA:33355 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... |
OMIM:619752 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Crohn's disease, Decreased circulating IgG level, Tricuspid regur... |
OMIM:619705 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Decreased DLCO, Thrombocytopenia, Dyspnea, Anemia, Bone-mar... |
OMIM:607616 |
Shigellosis |
|
Splenic abscess, Acute colitis, Leukocytosis, Hypovolemic shock, Sepsis, Peritonitis, Abscess, My... |
ORPHA:810 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Acute colitis, Hypocalcemia, Pancreatitis, Leu... |
ORPHA:544482 |
Cirrhosis, Familial |
|
Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Transient ischemic attack, Abnormal pericardium morphology, Skin rash, Recurrent intra... |
ORPHA:183 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Scleroderma |
|
Keratitis, Transient ischemic attack, Osteomyelitis, Intestinal bleeding, Raynaud phenomenon, Rig... |
ORPHA:801 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Infectious encephalitis, Cardiomyopathy, Conges... |
ORPHA:3386 |
Scrub Typhus |
|
Skin rash, Splenomegaly, Hypotension, Myocarditis, Anterior uveitis, Meningitis, Infectious encep... |
ORPHA:83317 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... |
OMIM:614878 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody ... |
OMIM:616576 |
Thymic Aplasia |
|
Recurrent candida infections, Decreased proportion of naive T cells, Recurrent streptococcus pneu... |
ORPHA:83471 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Leukocytosis, Arrhythmia, Myocarditis, Pericarditis, Hypotension, Weight loss |
ORPHA:188 |
Omenn Syndrome |
|
Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Recurrent bacterial infections, Hypop... |
OMIM:603554 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Mixed Connective Tissue Disease |
|
Gastritis, Skin rash, Splenomegaly, Leukopenia, Myositis, Myocarditis, Arthritis, Keratoconjuncti... |
ORPHA:809 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... |
ORPHA:231401 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Sepsis, Lymphadenitis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... |
ORPHA:2552 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Sepsis, Eczema, Chronic sinu... |
ORPHA:443811 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Skin rash, Leukocytosis, Macu... |
ORPHA:319213 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hemothorax, Myocarditis, Thrombocytope... |
ORPHA:99827 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Recur... |
OMIM:600802 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Increased circulating IgG ... |
OMIM:209950 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Immunodeficiency, Common Variable, 10 |
|
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... |
OMIM:615577 |
Slc35A1-Cdg |
|
Respiratory distress, Neutropenia, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrha... |
ORPHA:238459 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Listeriosis |
|
Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Septic arthritis, U... |
ORPHA:533 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Refractory Anemia |
|
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Erythro... |
ORPHA:98826 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Felty Syndrome |
|
Sinusitis, Splenomegaly, Anemia, Sepsis, Recurrent urinary tract infections, Chronic otitis media... |
ORPHA:47612 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ... |
OMIM:147060 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Sple... |
OMIM:615122 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... |
OMIM:102700 |
Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Recurrent abscess formation, B... |
ORPHA:2038 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Arrhythmi... |
ORPHA:31824 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Skin rash, Reduced natural killer ... |
OMIM:603553 |
Immunodeficiency 56 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... |
OMIM:615207 |
Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Splenomegaly, Granuloma, Recurrent Klebsiella infections, Re... |
OMIM:306400 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Splenomegaly, Leukocytosis, Myeloproliferative disorder, Intracranial he... |
ORPHA:3226 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:251190 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Cerebral hemorrhage, Panuveitis, Optic neuritis, ... |
OMIM:301081 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Leukocyte Adhesion Deficiency, Type I |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent bacterial infectio... |
OMIM:116920 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... |
ORPHA:231111 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections, Obesity |
OMIM:605309 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... |
OMIM:618116 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Abscess, Hem... |
OMIM:618935 |
Systemic Sclerosis |
|
Telangiectasia, Osteomyelitis, Intestinal bleeding, Recurrent skin infections, Raynaud phenomenon... |
ORPHA:90291 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Specific Granule Deficiency 2 |
|
Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurrent pneumonia, Recur... |
OMIM:617475 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:615934 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... |
ORPHA:90362 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, B... |
ORPHA:101096 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Otitis media, Eczema, Decreased mean platelet volume, Pneumonia, Large vessel vasculitis, Abnorma... |
OMIM:600903 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... |
ORPHA:33110 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Acute infectious pneumonia, Hematochezia, Myocarditis, Gastroint... |
ORPHA:73263 |
Immunodeficiency 23 |
|
Vasculitis in the skin, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster... |
OMIM:615816 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... |
OMIM:307200 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Pustule, Vasculitis in the skin, Skin rash... |
ORPHA:50918 |
Thrombocytopenia 5 |
|
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis |
OMIM:616216 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Chronic oral candidiasis, Recurrent bacterial infections, Reduced natural killer c... |
OMIM:608233 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... |
OMIM:241600 |
Simple Cryoglobulinemia |
|
Abnormal heart morphology, Viral hepatitis, Nephritis, Raynaud phenomenon, Complement deficiency,... |
ORPHA:91139 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Kawasaki Disease |
|
Cheilitis, Skin rash, Double outlet right ventricle with subpulmonary ventricular septal defect w... |
ORPHA:2331 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec... |
OMIM:214500 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Leukocytosis, Respiratory fail... |
ORPHA:90060 |
Acute Promyelocytic Leukemia |
|
Petechiae, Neutropenia, Bruising susceptibility, Leukocytosis, Abnormal bleeding, Leukopenia, Ora... |
ORPHA:520 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Nephritis,... |
OMIM:603909 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Abnor... |
ORPHA:75564 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... |
ORPHA:133 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Retinal hemorrhage, Gingival bleeding, Ecchymosis, Recurrent infections, Pancytopeni... |
ORPHA:88 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal bleed... |
ORPHA:91547 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren... |
ORPHA:79124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency 58 |
|
Onychomycosis, Colitis, Eczema, Recurrent upper respiratory tract infections, Chronic otitis medi... |
OMIM:618131 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Lymphopenia, Cerebral hemorrhage, Decreased circulating total IgM, Hyperte... |
OMIM:182410 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... |
OMIM:612840 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... |
ORPHA:231154 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Abnormal cytokine signaling, Hemophagocytosis, Seve... |
ORPHA:158048 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Sepsis, Recurr... |
OMIM:602450 |
Aspergillosis |
|
Asthma, Sinusitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Chronic pulmonary obs... |
ORPHA:1163 |
Thymic Tumor |
|
Pericarditis, Cardiac arrest, Dysgammaglobulinemia |
ORPHA:100100 |
Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... |
ORPHA:466677 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Scedosporiosis |
|
Unusual skin infection, Opportunistic fungal infection, Unusual CNS infection, Osteomyelitis, Sin... |
ORPHA:449280 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Decreased circulating IgA level, Abnormal T cell morphology, Small for gestational... |
OMIM:215250 |
Relapsing Polychondritis |
|
Keratitis, Conjunctivitis, Chondritis, Abnormal aortic valve morphology, Myocarditis, Arthritis, ... |
ORPHA:728 |
Dermatomyositis |
|
Telangiectasia of the skin, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Myocar... |
ORPHA:221 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Pericarditis, Hyperten... |
ORPHA:767 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:617388 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormally l... |
OMIM:242700 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level, Recurrent respiratory infections |
DECIPHER:45 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytosis, Splenom... |
OMIM:301078 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:617062 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... |
ORPHA:3342 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circu... |
OMIM:242860 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... |
OMIM:603585 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Budd-Chiari syndrome, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis... |
OMIM:226300 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Abnormal bleeding, Leukopenia, Abnormal macro... |
ORPHA:507 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Intestinal bleeding, Reduced circulating transferrin concentrati... |
ORPHA:90363 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Failure to thrive, Sinusitis, Lymphopenia, Skin rash, Splen... |
OMIM:617591 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Defective T cell proliferation, Candida esophagitis, Eosinophilic infiltration... |
OMIM:618213 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... |
OMIM:619313 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Cheilitis, Megaloblastic anemia, Eosinophilia, Recurrent urinary tract infecti... |
ORPHA:90045 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Abnormal mucociliary clearance, Splenomega... |
ORPHA:90051 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, L... |
OMIM:208900 |
Vici Syndrome |
|
Failure to thrive, Recurrent fungal infections, Decreased circulating IgG level, Left ventricular... |
OMIM:242840 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... |
OMIM:275350 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Juvenile rheumato... |
ORPHA:85414 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Gastritis, Vasculitis in the skin, B lymph... |
OMIM:619381 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Splenomegaly, Mastocytosis |
ORPHA:98848 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Polymyositis |
|
Abnormal mitral valve morphology, Elevated circulating creatine kinase concentration, Arrhythmia,... |
ORPHA:732 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small ... |
ORPHA:86816 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... |
ORPHA:1930 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hypersplenism, Uveitis, Bone marrow hypoc... |
ORPHA:3261 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Apnea, Decreased circulating IgG level, Recurrent infections, Neutropenia |
OMIM:608809 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Decre... |
ORPHA:449395 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... |
ORPHA:542323 |
Cystic Fibrosis |
|
Decreased circulating antibody level, Recurrent respiratory infections |
ORPHA:586 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Leukopenia, Increased circulating IgG level, Vasculitis, Incr... |
ORPHA:83313 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Skin rash... |
OMIM:617099 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... |
OMIM:152700 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Spleno... |
ORPHA:729 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Bronchiectasis, Sepsis, Recurrent upper respiratory tract infections, Severe B... |
ORPHA:293978 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... |
OMIM:610984 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoproteinemia, Shock, Hypoalbuminemia, Neutropenia |
OMIM:600351 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Conjunctival telangiectasia, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency 47 |
|
Failure to thrive, Tricuspid regurgitation, Splenomegaly, Decreased circulating total IgA, Decrea... |
OMIM:300972 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Leuk... |
ORPHA:2968 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:620040 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tr... |
OMIM:619487 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Severe infection, Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Recurrent skin infections, Sepsis, Recurrent upper respiratory tract... |
OMIM:233600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Decreased prealbumin level, Pneumonia, Fail... |
ORPHA:37042 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Elevated circulating C-reactive protein concentration, Orchitis, Skin rash, Splenomegaly, Leukocy... |
ORPHA:32960 |
Riddle Syndrome |
|
Telangiectasia, Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, E... |
ORPHA:420741 |
Common Variable Immunodeficiency |
|
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Vascu... |
ORPHA:1572 |
Whim Syndrome |
|
Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Elevated circula... |
OMIM:614576 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Polycythemia, Palpitations, Arrhythmia, Myocarditis, Myocardi... |
ORPHA:892 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Maculopapular exanthema, Elevated circulating creatinine concentration, Uveitis, Pe... |
ORPHA:99826 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Sepsis, Recurrent bacterial infec... |
ORPHA:811 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recur... |
ORPHA:906 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... |
ORPHA:169105 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Fulminant hepatitis, Scleros... |
ORPHA:2137 |
Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Recurrent respiratory inf... |
OMIM:615758 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Coccidioidomycosis |
|
Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Coccidioidal meningitis, O... |
ORPHA:228123 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Pulmonary venous hypertension... |
ORPHA:3202 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Abnormal pericardium morphology, Leukocytosis, Anemia, Constrictive pericarditis, ... |
ORPHA:67 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Prolonged bleeding time, Microcytic anemia, Intern... |
ORPHA:90308 |
Mast Cell Sarcoma |
|
Splenomegaly, Mastocytosis |
ORPHA:66661 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Tel... |
ORPHA:284227 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Recurrent upper respiratory tract infection... |
ORPHA:66628 |
Familial Mediterranean Fever |
|
Crohn's disease, Elevated circulating C-reactive protein concentration, Orchitis, Elevated circul... |
OMIM:249100 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:1345 |
African Trypanosomiasis |
|
Keratitis, Optic neuritis, Splenomegaly, Iritis, Hepatosplenomegaly, Arrhythmia, Myelitis, Myocar... |
ORPHA:3385 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level, Splenomegaly, Elevated circulating creatine k... |
OMIM:613327 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Pericarditis, Arthri... |
OMIM:617321 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Recurrent upper respiratory tract infection... |
ORPHA:179494 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Pericardial ... |
OMIM:212065 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... |
ORPHA:54251 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis medi... |
ORPHA:900 |
Mirage Syndrome |
|
Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Leukopen... |
OMIM:617053 |
Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Elevated circulating C-reactive... |
ORPHA:93672 |
Angiostrongyliasis |
|
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... |
ORPHA:74 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, T... |
ORPHA:75249 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:612301 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrioventricular block, Arrhythmia, Myocarditis |
ORPHA:93317 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Abnormal T-wave, Reduc... |
ORPHA:70591 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Splenomegaly, Hepatitis, Hypersplenism, Hashimoto thyroiditis, P... |
OMIM:613385 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... |
ORPHA:99103 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Premature ventricular contraction, Decreased circulating total I... |
OMIM:602668 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Intraalveol... |
OMIM:610913 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Dyspnea, Anemia, Thrombocytopenia |
OMIM:246400 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Spleno... |
OMIM:612852 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Impaired T cell function, Decreased serum zinc |
OMIM:201100 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arrhythmia, Vasculitis, Arthritis, Uveitis, Incr... |
ORPHA:727 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Decreased serum complement factor B, Increased circulating IgA level, Abno... |
ORPHA:2298 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... |
ORPHA:3092 |
Nocardiosis |
|
Keratitis, Cutaneous abscess, Unusual CNS infection, Osteomyelitis, Thyroiditis, Severe infection... |
ORPHA:31204 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hypoxemia, Raynaud phenomenon, Crackles, Decreased DLCO, Wheezing,... |
ORPHA:79128 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Facial telangiectasia in butter... |
OMIM:210900 |
Hereditary Orotic Aciduria |
|
Impaired T cell function, Recurrent respiratory infections |
ORPHA:30 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Decreased D... |
ORPHA:199241 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Low pulse press... |
ORPHA:97292 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Spastic Paraplegia Type 2 |
|
Pulmonary embolism, Recurrent respiratory infections |
ORPHA:99015 |
Sickle Cell Anemia |
|
Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolytic anemia, Target cells, Incre... |
OMIM:603903 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Splenomegaly, Leukocytosis, Recurrent bacterial infections, Elevated circulating... |
OMIM:615895 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... |
OMIM:256040 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Elevated alpha-fetoprotein, Conjunctival telangiectasia, Facial ... |
OMIM:208910 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
Behçet Disease |
|
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... |
ORPHA:117 |
Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Anemia, Hyperproteinemia, Increased circulating Ig... |
ORPHA:29073 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level, Vacuolated lymphocytes, Spl... |
OMIM:248500 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Arrhythmia, Myocarditis, Atrial septal defect |
OMIM:250220 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Tick-Borne Encephalitis |
|
Unusual CNS infection, Elevated circulating C-reactive protein concentration, Leukocytosis, Leuko... |
ORPHA:297 |
Rift Valley Fever |
|
Melena, Hematemesis, Skin rash, Increased circulating IgG level, Retinal hemorrhage, Severe viral... |
ORPHA:319251 |
Pericardial Effusion, Chronic |
|
Polycythemia, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating IgA lev... |
OMIM:260920 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Intraalveolar phospholipid accumu... |
ORPHA:470 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... |
ORPHA:774 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent fungal infections, Elevated circulating C-reactive protein concentration, Lymphopenia, ... |
OMIM:619573 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... |
ORPHA:99104 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Pulmonary embolism, Subcutaneous hemorrhage |
ORPHA:743 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:262850 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Anemia, Leukopenia, Purpura, Neutropenia, Microangiopa... |
ORPHA:2330 |
Reactive Arthritis |
|
Osteomyelitis, Pustule, Recurrent urinary tract infections, Inflammation of the large intestine, ... |
ORPHA:29207 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Atrial septal defect, Lymphopen... |
OMIM:620005 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Eczema, Macrocytic anemia, Iron... |
OMIM:212750 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism |
ORPHA:745 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Supraventricular arrhythmia, Neutrophilia, Vasculitis in the skin, Transien... |
ORPHA:3260 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Recurrent infections, Neutropenia |
OMIM:258360 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Atrial septal defect, Left vent... |
ORPHA:79330 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Syncope, Heart murmur,... |
ORPHA:275766 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Pancreatitis, Abnormal lymphocyte physiology, Impaired T cell function, Recurrent... |
ORPHA:1830 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Recurrent... |
ORPHA:99843 |
Hypocomplementemic Urticarial Vasculitis |
|
Meningitis, Recurrent bacterial infections, Splenomegaly |
ORPHA:36412 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Increased circula... |
ORPHA:289390 |
Yellow Fever |
|
Supraventricular arrhythmia, Increased circulating interleukin 6 concentration, Hematemesis, Exce... |
ORPHA:99829 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Nephritis, Comple... |
ORPHA:449427 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Large for gestational age, Decreased circulating IgA level |
ORPHA:457485 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
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