Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... |
OMIM:615592 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 105 |
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Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... |
OMIM:614470 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Immunodeficiency 18 |
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Recurrent otitis media, Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-... |
OMIM:615615 |
Immunodeficiency 24 |
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Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly |
OMIM:606445 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Leukopenia, Acute myeloid leukemia, Eczema, Bone marrow hypocellularity, Refractory anemia, Monoc... |
OMIM:616871 |
Immunodeficiency 11 |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Adult Idiopathic Neutropenia |
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Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c... |
ORPHA:2688 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 62 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency, Common Variable, 3 |
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Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Caspase 8 Deficiency |
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Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Eczema, Co... |
OMIM:607271 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Absent circu... |
OMIM:613500 |
Immunodeficiency 50 |
|
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... |
OMIM:607594 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... |
OMIM:619707 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
Agammaglobulinemia 6, Autosomal Recessive |
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Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, C... |
OMIM:612692 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... |
OMIM:247800 |
Immunodeficiency 64 With Lymphoproliferation |
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Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Defective T cell proli... |
OMIM:618534 |
Immunodeficiency 92 |
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Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis... |
OMIM:619652 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 15A |
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Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... |
OMIM:618204 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Eczema, Neutropenia |
OMIM:300299 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast... |
ORPHA:486 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Inflammatory abnormality of the sk... |
ORPHA:277 |
Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-positive helper T ... |
OMIM:301082 |
Immunodeficiency 32B |
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Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... |
OMIM:226990 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... |
OMIM:308240 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... |
OMIM:619220 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:169154 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent otitis media, A... |
OMIM:613501 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... |
OMIM:312863 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... |
OMIM:618969 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Os... |
OMIM:614172 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... |
OMIM:300853 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Membranoproliferative glomerulonephritis, Hepatosplenomegaly, Recurrent pneumonia, ... |
OMIM:619644 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Transcobalamin Deficiency |
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Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Erythema nodosum, Agamm... |
OMIM:615214 |
X-Linked Lymphoproliferative Disease |
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T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... |
ORPHA:2442 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... |
OMIM:301081 |
Immunodeficiency 27A |
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Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Increased inflammato... |
OMIM:209950 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... |
OMIM:617514 |
Immunodeficiency 60 And Autoimmunity |
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Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Pancytopeni... |
OMIM:618394 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... |
OMIM:601457 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... |
OMIM:617638 |
Immunodeficiency 81 |
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Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Immunodeficiency 75 With Lymphoproliferation |
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Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... |
OMIM:619126 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Mu-Heavy Chain Disease |
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Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... |
ORPHA:100024 |
Immunodeficiency 85 And Autoimmunity |
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Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,... |
OMIM:619510 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... |
OMIM:618108 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:608106 |
Immunodeficiency 25 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:240500 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... |
OMIM:601859 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... |
ORPHA:169160 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Bronchiectasis,... |
OMIM:619705 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... |
OMIM:619164 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Decreased proportion of class-switched memo... |
OMIM:615767 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Abnormal lymph node morphology, Chronic oral ... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Dec... |
ORPHA:276 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Decreased proportion of central memory CD4-positive, alpha-beta... |
OMIM:616098 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, He... |
OMIM:618495 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Cutaneous abs... |
OMIM:619752 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis, Decreased circulating complement C3 concentration |
ORPHA:79087 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... |
OMIM:615518 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Recur... |
OMIM:600802 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Lym... |
OMIM:618048 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... |
OMIM:242700 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Thrombocytopenia, Pneu... |
OMIM:614700 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Seborrhe... |
OMIM:619693 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Cutaneous abscess, Ecze... |
OMIM:618282 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... |
ORPHA:572 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... |
OMIM:300310 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, Decreased... |
OMIM:102700 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, T lymphocytopenia, B lymphoc... |
OMIM:612260 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Per... |
OMIM:615758 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneu... |
ORPHA:139402 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating a... |
OMIM:601495 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Increased circulating interleukin 6 concentration, Perianal ab... |
OMIM:301074 |
Boutonneuse Fever |
|
Leukopenia, Skin rash, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy... |
ORPHA:83313 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... |
ORPHA:514 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... |
OMIM:617388 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Hepatomega... |
ORPHA:79456 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Malar rash, Skin rash, Lymphopenia, Myositis, Pustule, Follicular hyperplasia... |
OMIM:615934 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Sinusitis, Decreased circul... |
OMIM:242860 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... |
ORPHA:90362 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Skin rash, Inflammation of the large intestine, Colonic eosinophilia, Recurrent pn... |
OMIM:617718 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... |
OMIM:275350 |
Wiskott-Aldrich Syndrome |
|
Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:301000 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthritis, Sclerosing chola... |
ORPHA:2137 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Chronic irritative conjunctivitis, Neutropenia |
OMIM:258360 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... |
OMIM:618213 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Immunodeficiency 23 |
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Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Eczema, Lymphopenia, Increased circulating I... |
OMIM:615816 |
Immunodeficiency 82 With Systemic Inflammation |
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T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... |
OMIM:619381 |
Brucellosis |
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Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
Immunodeficiency 47 |
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Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu... |
OMIM:300972 |
Igg4-Related Submandibular Gland Disease |
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Increased circulating IgG4 level, Retroperitoneal fibrosis, Prostatitis, Increased circulating an... |
ORPHA:449432 |
Wolcott-Rallison Syndrome |
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Abnormality of the liver, Exocrine pancreatic insufficiency, Lymphocytosis, Jaundice, Hepatomegal... |
ORPHA:1667 |
Kikuchi-Fujimoto Disease |
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Abnormal lymph node morphology, Leukopenia, Anemia, Malar rash, Myocarditis, Lymphocytosis, Skin ... |
ORPHA:50918 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Ulc... |
ORPHA:562639 |
Igg4-Related Kidney Disease |
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Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia... |
ORPHA:449395 |
Liver Disease, Severe Congenital |
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Eczema, Portal inflammation, Hepatic steatosis, Hepatomegaly, Thrombocytopenia, Pneumonia, Spleno... |
OMIM:619991 |