Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Immunodeficiency 15B |
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Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 18 |
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Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... |
OMIM:615615 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... |
OMIM:615559 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
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, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 62 |
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Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... |
OMIM:618986 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 92 |
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Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Immunodeficiency, Common Variable, 14 |
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Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut... |
ORPHA:486 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Immunodeficiency 95 |
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Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased... |
ORPHA:277 |
Immunodeficiency 32B |
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Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Immunodeficiency 102 |
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Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Combined Immunodeficiency, X-Linked |
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Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Immunodeficiency 21 |
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Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Aicardi-Goutieres Syndrome 2 |
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Lymphocytosis |
OMIM:610181 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Re... |
OMIM:619644 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Agammaglobulinemia 7, Autosomal Recessive |
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Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Autoinflammatory Disease, Systemic, X-Linked |
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Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Wiskott-Aldrich Syndrome 2 |
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Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... |
OMIM:209950 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... |
OMIM:618394 |
Immunodeficiency 11B With Atopic Dermatitis |
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Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
Immunodeficiency 75 With Lymphoproliferation |
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Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched m... |
OMIM:619126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 57 With Autoinflammation |
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Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... |
OMIM:619510 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, He... |
OMIM:616100 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... |
OMIM:601859 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Immunodeficiency, Common Variable, 7 |
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Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Immunodeficiency 76 |
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Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Immunodeficiency, Common Variable, 11 |
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Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat... |
OMIM:615767 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increase... |
OMIM:616005 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Immunodeficiency 37 |
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Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... |
ORPHA:397596 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Cernunnos-Xlf Deficiency |
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Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... |
OMIM:614878 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... |
OMIM:243700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... |
OMIM:618048 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Recurrent skin infections, Splenomegaly, Decreased circulating total I... |
OMIM:620210 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... |
OMIM:618282 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr... |
OMIM:102700 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloint... |
ORPHA:139402 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Decreased circulating total IgM, Panniculitis, Decreased... |
OMIM:615758 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... |
ORPHA:83313 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... |
OMIM:613179 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... |
OMIM:242860 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Pustule, Follicular hyperplasia, Malar rash... |
OMIM:615934 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... |
OMIM:617718 |
Primary Intestinal Lymphangiectasia |
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Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... |
ORPHA:90362 |
Autoimmune Hepatitis |
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Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Transcobalamin Ii Deficiency |
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Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Wiskott-Aldrich Syndrome |
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Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Immunodeficiency 23 |
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Hemolytic anemia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Eczema, Allerg... |
OMIM:615816 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... |
OMIM:619381 |
Brucellosis |
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Liver abscess, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abnormality of t... |
ORPHA:1304 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... |
OMIM:300972 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Wolcott-Rallison Syndrome |
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Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope... |
ORPHA:1667 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Splenomegaly, Myocarditis, Cervica... |
ORPHA:50918 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph... |
ORPHA:562639 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... |
ORPHA:449395 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentr... |
OMIM:619991 |