Immunodeficiency 24 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Secretory Component Deficiency |
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Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count |
OMIM:613495 |
Histiocytosis, Familial Lipochrome |
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Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 105 |
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Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... |
OMIM:619924 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Lymphoma, Hodgkin, Classic |
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Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 50 |
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Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... |
OMIM:617514 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Immunodeficiency 62 |
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Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... |
OMIM:618987 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... |
OMIM:617241 |
Immunodeficiency 15B |
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Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
Agammaglobulinemia 3, Autosomal Recessive |
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Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... |
OMIM:619846 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Transcobalamin Deficiency |
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Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
Lymphoproliferative Syndrome 3 |
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Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... |
OMIM:618261 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... |
OMIM:603909 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... |
ORPHA:169079 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... |
OMIM:612692 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... |
OMIM:615285 |
Severe Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... |
OMIM:619281 |
Immunodeficiency 37 |
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Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Immunodeficiency 96 |
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Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:608184 |
Immunodeficiency 66 |
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Defective T cell proliferation |
OMIM:618847 |
Immunodeficiency 67 |
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Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
Immunodeficiency 115 With Autoinflammation |
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Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... |
OMIM:620632 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
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Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... |
ORPHA:572 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Orotic Aciduria |
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Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
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 |
Mhc Class Ii Deficiency 1 |
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Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia |
OMIM:209920 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Hereditary Orotic Aciduria |
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Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... |
OMIM:614576 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Impaired T cell function |
OMIM:201100 |
Immunodeficiency 58 |
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Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... |
OMIM:618131 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Decreased circulating IgA level, Hepatosplenomegaly, Abnormal circulating IgG level, Leukocytosis... |
OMIM:620376 |
Vici Syndrome |
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Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level |
OMIM:181000 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
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Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Anemia |
OMIM:188400 |