Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 79 |
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Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
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Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Immunodeficiency 19 |
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Lymphopenia |
OMIM:615617 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 105 |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 14A, Autosomal Dominant |
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Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Splenomegaly |
OMIM:606445 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 24 |
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Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Immunodeficiency 104 |
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Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Immunodeficiency 13 |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Aicardi-Goutieres Syndrome 2 |
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Lymphocytosis |
OMIM:610181 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Lymphopenia, Neutropenia |
OMIM:614868 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia |
OMIM:618987 |
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 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Myeloproliferative Syndrome, Transient |
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Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Immunodeficiency 68 |
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Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 97 With Autoinflammation |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Neutropenia, Severe Congenital, X-Linked |
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Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 21 |
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Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:911 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular hyperplasia, He... |
OMIM:614470 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617006 |
Immunodeficiency 22 |
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Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C... |
OMIM:300853 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... |
OMIM:619374 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 72 With Autoinflammation |
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Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ... |
OMIM:600802 |
Burkitt Lymphoma |
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Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... |
ORPHA:543 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
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 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... |
ORPHA:572 |
Aregenerative Anemia |
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Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Acute Panmyelosis With Myelofibrosis |
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Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Lymphoproliferative Syndrome 1 |
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Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... |
OMIM:606367 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Pgm3-Cdg |
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Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Acute Monoblastic/Monocytic Leukemia |
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Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancytopenia, Abnor... |
ORPHA:79124 |
X-Linked Lymphoproliferative Disease |
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Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Cervical lymphadenopathy, Hepatospl... |
ORPHA:2442 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... |
ORPHA:508533 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Immunodeficiency 92 |
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Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Onychotrichodysplasia And Neutropenia |
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Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
Obesity Due To Congenital Leptin Deficiency |
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Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cells, Decreased testicul... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cells, Decreased testicul... |
ORPHA:179494 |
Thymic Aplasia |
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Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Ataxia-Telangiectasia |
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Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... |
OMIM:208900 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphadenopathy |
OMIM:607944 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
Agammaglobulinemia, X-Linked |
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B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia |
OMIM:300755 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-pos... |
ORPHA:3261 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, Follicular hyperplasia, B lymphocytopenia, T... |
OMIM:619381 |
Sarcoidosis |
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Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Lymphadenopathy, Hemolytic anemia, Enla... |
ORPHA:797 |