Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... |
OMIM:619238 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Recurrent viral infections, Severe vari... |
OMIM:615897 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Recurrent infections, Monocytosis, Agammaglobulinemia, Decr... |
OMIM:615592 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Recurrent infections, Hepatosplenomegaly, Decreased circulatin... |
OMIM:618261 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased alpha-globulin, Polyarticular arthritis, Increased circulating an... |
OMIM:235900 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent bacterial meningitis, Reduc... |
OMIM:300400 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... |
OMIM:618108 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Persistent EBV viremia, T lymp... |
OMIM:619510 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... |
OMIM:618806 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... |
OMIM:241600 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:619752 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Decreased... |
OMIM:613101 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmunity, Aut... |
OMIM:614470 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymphocytopenia... |
OMIM:615518 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... |
OMIM:620282 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... |
ORPHA:277 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent... |
ORPHA:397596 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Immunodeficiency 44 |
|
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... |
OMIM:616636 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Recurrent respiratory infectio... |
OMIM:300635 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... |
OMIM:601457 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent... |
ORPHA:169160 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Increased circulating IgG level, Inflammation of the large in... |
ORPHA:98813 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, B lymphocytopenia, Abnormally low T cell receptor excision circ... |
OMIM:618987 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur... |
OMIM:240500 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 104 |
|
Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, T lymphocyto... |
OMIM:608971 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circu... |
OMIM:613011 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Recurrent respiratory infections, Recurrent vira... |
OMIM:609981 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatit... |
OMIM:616100 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory trac... |
OMIM:616005 |
Immunodeficiency 68 |
|
Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnormal natural kil... |
OMIM:612260 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... |
OMIM:618495 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni... |
OMIM:615285 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent b... |
OMIM:619164 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, In... |
OMIM:301000 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... |
OMIM:617780 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent respi... |
OMIM:620210 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... |
ORPHA:100024 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R... |
ORPHA:221139 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... |
OMIM:608233 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... |
ORPHA:2688 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Immunodeficiency 27A |
|
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... |
OMIM:209950 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Recurrent ear infectio... |
ORPHA:79124 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... |
OMIM:604416 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... |
OMIM:301078 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Persistent CMV viremia, Pneumoni... |
OMIM:619652 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... |
ORPHA:158048 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopa... |
ORPHA:37748 |
Rosaï-Dorfman Disease |
|
Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... |
ORPHA:3392 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... |
OMIM:615758 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... |
OMIM:613179 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Decreased circulating antibody level, ... |
ORPHA:90362 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Thrombocytopenia, Splenomegal... |
OMIM:617591 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... |
OMIM:607115 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Auto... |
ORPHA:47 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs... |
OMIM:301074 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia |
OMIM:617827 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper r... |
OMIM:615952 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased r... |
OMIM:615577 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Limited elbow movement, Craniosynostosis, Decreased proportion of CD8-... |
ORPHA:508533 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Incr... |
OMIM:615934 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... |
OMIM:604250 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Elevated circul... |
ORPHA:829 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,... |
OMIM:617744 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea... |
ORPHA:85414 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... |
ORPHA:69126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He... |
OMIM:619750 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Transient hypogammaglobulinemia of infancy, Patellar hypoplasia, Recurrent i... |
OMIM:251240 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Reduced C-peptide level, Anti-glutamic acid decarboxylase antibody positivity, Elevated hemoglobi... |
OMIM:610582 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Roifman Syndrome |
|
Hip contracture, Eosinophilia, Eczema, Delayed proximal femoral epiphyseal ossification, Recurren... |
ORPHA:353298 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... |
ORPHA:3162 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Abnormal testis morphology, Decreased circulating antibody leve... |
ORPHA:100 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:617099 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Severe i... |
OMIM:304790 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Recurrent infections, Decreased circulating antibody level |
OMIM:616910 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Recurrent infections, Decreased circulating ... |
OMIM:619381 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Recurr... |
OMIM:170100 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ... |
ORPHA:206572 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte proliferation... |
ORPHA:99867 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Sepsis, ... |
ORPHA:37042 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating antibody le... |
OMIM:605309 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia,... |
OMIM:226300 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Q Fever |
|
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Meningi... |
ORPHA:781 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel... |
ORPHA:48435 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... |
OMIM:615688 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... |
ORPHA:329918 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... |
ORPHA:760 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c... |
OMIM:208900 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, Hepatic cysts, Eosino... |
ORPHA:400 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level |
ORPHA:1296 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hor... |
ORPHA:293978 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... |
OMIM:256500 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated ... |
ORPHA:79099 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Sepsi... |
ORPHA:247353 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Leukopenia, Increased circulating... |
ORPHA:319218 |
Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating... |
ORPHA:125 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti... |
ORPHA:723 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... |
OMIM:180300 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:66628 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Autoimmunity |
OMIM:618398 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Delayed ossification of... |
OMIM:617425 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:179494 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopen... |
OMIM:242900 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Brucellosis |
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Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Secondary Intestinal Lymphangiectasia |
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Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... |
ORPHA:90363 |
Multiple Myeloma |
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Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Lysinuric Protein Intolerance |
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Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Alopecia Antibody Deficiency |
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Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Xeroderma Pigmentosum, Complementation Group E |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Angiostrongyliasis |
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Stiff neck, Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased ... |
ORPHA:74 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Autoimmuni... |
ORPHA:449432 |
Bone Marrow Failure Syndrome 5 |
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Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr... |
OMIM:618165 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin |
ORPHA:90036 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Agam... |
ORPHA:935 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Transcobalamin Ii Deficiency |
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Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Vici Syndrome |
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Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... |
OMIM:242840 |
Netherton Syndrome |
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Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Recurrent i... |
ORPHA:634 |
Alg12-Cdg |
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Hyponatremia, Recurrent respiratory infections, Ulnar deviation of the wrist, Partial absence of ... |
ORPHA:79324 |
Primary Sjögren Syndrome |
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Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Felty Syndrome |
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Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Congenital Analbuminemia |
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Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
Osteopetrosis, Autosomal Recessive 7 |
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Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Osteope... |
OMIM:612301 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Cowden Syndrome 1 |
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Thyroiditis, Recurrent infections, Hydrocele testis, Ovarian cyst, Decreased circulating antibody... |
OMIM:158350 |
Say-Barber-Miller Syndrome |
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Eczema, Craniosynostosis, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of in... |
ORPHA:3132 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch... |
OMIM:615846 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Mannosidosis, Alpha B, Lysosomal |
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Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
Xeroderma Pigmentosum, Complementation Group A |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:600901 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... |
ORPHA:49041 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Dysgammaglobulinemia,... |
OMIM:251260 |
Xeroderma Pigmentosum, Complementation Group D |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227650 |
Mgat2-Cdg |
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Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Decreased circulating ant... |
ORPHA:79329 |
Alveolar Echinococcosis |
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Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Gaucher Disease Type 3 |
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Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Increased bone mineral density, Spl... |
ORPHA:77261 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Syndromic Diarrhea |
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Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent infections, Abno... |
ORPHA:84064 |
Mogs-Cdg |
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Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... |
ORPHA:79330 |
Xfe Progeroid Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Thrombocytopenia 1 |
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Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227645 |
Encephalitis Lethargica |
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Stiff neck, Increased circulating antibody level, Autoimmunity, Recurrent viral infections |
ORPHA:83600 |
Myasthenia Gravis |
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Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... |
ORPHA:589 |
Poems Syndrome |
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Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Increas... |
ORPHA:2905 |
Hennekam Syndrome |
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Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Pulmon... |
ORPHA:2136 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Recurrent skin infections, Craniosynostosis, Sepsis, Recurrent infections, Decreased circulating ... |
ORPHA:79396 |
Hereditary Xanthinuria |
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Arthropathy, Recurrent urinary tract infections, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid... |
ORPHA:3467 |
Trichothiodystrophy |
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Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
Igg4-Related Thyroid Disease |
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Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Hypo... |
ORPHA:64744 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... |
OMIM:181000 |
Al Amyloidosis |
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Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... |
ORPHA:85443 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
Trichohepatoenteric Syndrome 1 |
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Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice... |
OMIM:222470 |
Microsporidiosis |
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Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... |
ORPHA:2552 |
Fanconi Anemia, Complementation Group D2 |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227646 |
Gaucher Disease |
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Osteopenia, Hepatomegaly, Pancytopenia, Joint dislocation, Increased bone mineral density, Recurr... |
ORPHA:355 |
De Sanctis-Cacchione Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Recurrent upper respiratory tract infections,... |
OMIM:618183 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Hemolytic anemia, Increased circulating interleukin 6 concentration, Severe infect... |
ORPHA:544482 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Skin rash, Eczema, Autoimmunity, Mediastinal lymphadenopathy, Autoimmune antibody p... |
ORPHA:79128 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
Sjogren Syndrome |
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Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Gastric Cancer |
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OMIM:613659 |