Immunodeficiency 24 |
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Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 18 |
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Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Recurrent respirato... |
OMIM:615615 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Immunodeficiency 14A, Autosomal Dominant |
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Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... |
OMIM:233650 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Caspase 8 Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... |
OMIM:607271 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Immunodeficiency 64 |
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Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Reticular Dysgenesis |
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Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency 52 |
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Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:605258 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Immunodeficiency 105 |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly... |
OMIM:619924 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 72 With Autoinflammation |
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Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Bronchiectasis, Incr... |
OMIM:618982 |
Immunodeficiency 75 |
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Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Absence of ly... |
ORPHA:277 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Severe Combined Immunodeficiency, X-Linked |
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Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... |
OMIM:600802 |
Autoimmune Lymphoproliferative Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:601859 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Bronchiolitis obliterans, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells,... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Lymphoid System Deterioration, Progressive |
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Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Immunodeficiency 102 |
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Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,... |
OMIM:613101 |
Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... |
OMIM:619164 |
Lymphoproliferative Syndrome 3 |
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Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Immunodeficiency 13 |
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Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... |
ORPHA:331206 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Lymphopenia, Aplasia of the thymus, Abnormally low T cell ... |
OMIM:242700 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Increased circulating IgG level, ... |
OMIM:618495 |
Immunodeficiency 97 With Autoinflammation |
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Hemophagocytosis, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... |
OMIM:619802 |
Immunodeficiency 36 |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Immunodeficiency 81 |
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Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Kimura Disease |
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Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:603909 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Griscelli Syndrome, Type 2 |
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Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... |
OMIM:150550 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... |
OMIM:614493 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decreased circulating an... |
OMIM:618108 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, T... |
ORPHA:101096 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Immunodeficiency 25 |
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Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Agammaglobulinemia, X-Linked |
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Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Bronchiolitis obli... |
OMIM:300755 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... |
OMIM:616100 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Chronic Beryllium Disease |
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Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Reticulonodular pattern on pulmo... |
ORPHA:133 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... |
ORPHA:572 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Primary Intestinal Lymphangiectasia |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:90362 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Pgm3-Cdg |
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Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Increased circulating I... |
ORPHA:443811 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Wiskott-Aldrich Syndrome |
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Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:301000 |
Bare Lymphocyte Syndrome, Type Ii |
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Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Recurrent lower respirato... |
OMIM:209920 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Tooth abscess, Decreased proportion of tran... |
ORPHA:331235 |
Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Recurrent streptococcus pneumoniae inf... |
ORPHA:83471 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:275 |
Sarcoidosis, Susceptibility To, 1 |
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Increased circulating antibody level, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Ab... |
OMIM:181000 |
Hereditary Orotic Aciduria |
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Anemia, Impaired T cell function, Recurrent respiratory infections, Splenomegaly |
ORPHA:30 |
Meige Disease |
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Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Hemophagocytic Syndrome Associated With An Infection |
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Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Abnormal cytoki... |
ORPHA:158048 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function, Hepatomegaly, Splenomegaly |
OMIM:201100 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |