Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Immunodeficiency 79 |
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Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Combined Immunodeficiency, X-Linked |
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Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 116 |
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Absence of CD8-positive T cells |
OMIM:608957 |
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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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency 19 |
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Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Immunodeficiency 48 |
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Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Immunodeficiency 105 |
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Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
Immunodeficiency 112 |
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Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Immunodeficiency 24 |
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Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
Immunodeficiency 104 |
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T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 13 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
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 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Aicardi-Goutieres Syndrome 2 |
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Lymphocytosis |
OMIM:610181 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
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 |
Reticular Dysgenesis |
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Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
Immunodeficiency 68 |
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Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
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, Common Variable, 4 |
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Abnormal T cell count |
OMIM:613494 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... |
OMIM:615607 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, T lymphocytopenia, Absence of lymph node germinal center, B lymphocytopenia |
ORPHA:277 |
Immunodeficiency 11A |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count |
OMIM:613493 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk... |
OMIM:614470 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618986 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio |
OMIM:617006 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... |
OMIM:300853 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 115 With Autoinflammation |
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Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly |
OMIM:620632 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 49 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Immunodeficiency 67 |
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Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Increased proportion of exhausted T cells |
OMIM:618307 |
Immunodeficiency 102 |
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Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Immunodeficiency 25 |
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Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
Burkitt Lymphoma |
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Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... |
OMIM:600802 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Bone Marrow Failure Syndrome 6 |
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Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Lymphoproliferative Syndrome 1 |
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Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
Immunodeficiency 40 |
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T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Aregenerative Anemia |
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Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Selective Igm Deficiency |
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Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... |
ORPHA:331235 |
Acute Panmyelosis With Myelofibrosis |
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Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... |
OMIM:606367 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Pgm3-Cdg |
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Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Acute Monoblastic/Monocytic Leukemia |
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Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... |
ORPHA:79124 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Immunodeficiency 92 |
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Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe... |
ORPHA:98813 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Obesity Due To Congenital Leptin Deficiency |
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Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary, Decreased proportio... |
ORPHA:66628 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L... |
ORPHA:83471 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary, Decreased proportio... |
ORPHA:179494 |
Ataxia-Telangiectasia |
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Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... |
OMIM:618223 |
Immunodeficiency 22 |
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Anemia, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia |
OMIM:615758 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Microcytic anemia, T lymphocytopenia, Neoplasm of the pancreas |
ORPHA:2959 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia |
OMIM:300755 |
Vici Syndrome |
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Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... |
OMIM:242840 |
Autoimmune Lymphoproliferative Syndrome |
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Bone marrow hypocellularity, Chronic noninfectious lymphadenopathy, Lymphopenia, Hypersplenism, D... |
ORPHA:3261 |
Nijmegen Breakage Syndrome |
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T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia |
OMIM:251260 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, Follicula... |
OMIM:619381 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopen... |
OMIM:620376 |
Bloom Syndrome |
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Abscess, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-positive T cell... |
ORPHA:125 |
Sarcoidosis |
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Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid gland, Increased T ... |
ORPHA:797 |