Immunodeficiency 24 |
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Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... |
OMIM:613495 |
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 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Anti-smooth muscle antibody positi... |
OMIM:601859 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
Immunodeficiency 18 |
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Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... |
OMIM:615615 |
Tn Polyagglutination Syndrome |
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Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 52 |
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Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... |
OMIM:617514 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
Immunodeficiency 11A |
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Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... |
OMIM:610163 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:617006 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... |
OMIM:618534 |
Immunodeficiency 112 |
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Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... |
ORPHA:277 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... |
OMIM:619632 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... |
OMIM:603909 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... |
OMIM:620430 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia, Splenomegaly... |
OMIM:614470 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... |
OMIM:300400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
OMIM:300853 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly, Systemic lupus erythematosus, Autoimmunit... |
ORPHA:444463 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating total IgM, Partial absence of specific antibody response to unconjugated pn... |
OMIM:240500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... |
OMIM:618944 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 102 |
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Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... |
OMIM:301082 |
Immunodeficiency 81 |
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Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... |
OMIM:619374 |
Immunodeficiency, Common Variable, 1 |
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Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
Insulin Autoimmune Syndrome |
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Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... |
ORPHA:411593 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... |
ORPHA:169154 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... |
ORPHA:331206 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... |
OMIM:619510 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618108 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 36 With Lymphoproliferation |
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Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Immunodeficiency 115 With Autoinflammation |
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Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... |
OMIM:620632 |
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 |
Macrophage Activation Syndrome |
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Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... |
ORPHA:158061 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Systemic lupus eryt... |
OMIM:616871 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:611926 |
Eosinophilopenia |
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Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... |
ORPHA:572 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
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Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... |
OMIM:620514 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... |
OMIM:618986 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Autoimmune hemolytic anemia, Absent isohemagglutinin level, Increased circulating antibody level,... |
OMIM:615559 |
Lymphoproliferative Syndrome 1 |
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Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo... |
OMIM:613011 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... |
OMIM:600802 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Increased circulating IgG level, Splenomegaly, Autoimmunity, Decreas... |
OMIM:618495 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
Unclassified Myelodysplastic Syndrome |
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Autoimmunity, Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Decreased circulating total IgM, Abnormal immunoglobulin level, Increased circulating IgG level, ... |
ORPHA:98813 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
Aicardi-Goutieres Syndrome 6 |
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Increased circulating Interferon-alpha concentration, Thrombocytopenia, Splenomegaly, Hemolytic a... |
OMIM:615010 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 13 |
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B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
Immunodeficiency 76 |
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B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Subcorneal Pustular Dermatosis |
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Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... |
ORPHA:48377 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Decreased circulating IgG le... |
ORPHA:275 |
Immunodeficiency 104 |
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Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Immunodeficiency 96 |
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Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... |
OMIM:619774 |
Immunodeficiency 22 |
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Decreased circulating total IgM, Anemia, Decreased circulating IgE, Decreased circulating IgG lev... |
OMIM:615758 |
Pgm3-Cdg |
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Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... |
ORPHA:35078 |
Igg4-Related Aortitis |
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Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... |
ORPHA:449400 |
Aregenerative Anemia |
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Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Increased circulating interferon-gamma concentration, Rheumatoid arthritis, Abnormal circulating ... |
ORPHA:85410 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... |
OMIM:308230 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... |
OMIM:606367 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... |
OMIM:242700 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... |
OMIM:615607 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... |
ORPHA:158057 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... |
ORPHA:79124 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Abnormal circulating interleukin concentration, Rheumatoid factor positive |
ORPHA:85435 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte... |
ORPHA:540 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:242860 |
Immunodeficiency 68 |
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B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Wiskott-Aldrich Syndrome |
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Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... |
OMIM:301000 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... |
ORPHA:70578 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
Autoimmune Polyendocrinopathy Type 4 |
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Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
Schimke Immuno-Osseous Dysplasia |
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Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, Impaired T cell... |
ORPHA:1830 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Agammaglobulinemia, X-Linked |
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Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... |
OMIM:300755 |
Immunodeficiency 40 |
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Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... |
OMIM:616433 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... |
ORPHA:83471 |
Autoimmune Polyendocrinopathy Type 3 |
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Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
New-Onset Refractory Status Epilepticus |
|
Autoimmunity, Abnormal circulating interleukin concentration |
ORPHA:363558 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... |
OMIM:208900 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Juvenile rheumatoid arthritis, Lymphopenia, T lymphocytopenia, Rheumatoid arthritis, Antinuclear ... |
OMIM:607944 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... |
OMIM:614576 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... |
ORPHA:542323 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... |
OMIM:618213 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
Sweet Syndrome |
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Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... |
ORPHA:3243 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Antiphospholipi... |
ORPHA:391487 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Vici Syndrome |
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Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... |
OMIM:242840 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration |
ORPHA:319552 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... |
OMIM:251260 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Leukocytosis, Abnormal circulating chemokine c... |
ORPHA:544482 |
Immunodeficiency 58 |
|
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr... |
OMIM:618131 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Anemia, B lymphocytopenia, Decreased proportion of naive T cells... |
OMIM:619381 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration |
ORPHA:69665 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Hashimoto thyroiditis, Abnormal B cell morphology, T lymphocytopenia |
OMIM:618223 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level, Splenomegaly, Pancytopenia |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly, Autoimmunity |
ORPHA:567 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly |
OMIM:188400 |