Immunodeficiency 24 |
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Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... |
OMIM:615897 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Immunodeficiency 62 |
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Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Immunodeficiency 19 |
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Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Immunodeficiency 15A |
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Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... |
OMIM:607594 |
Cernunnos-Xlf Deficiency |
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Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absence of lymph node germinal center, Recurrent opportunistic infections, Increased circulating ... |
ORPHA:277 |
Immunodeficiency 76 |
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Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Persistent EBV viremia, Absent circulati... |
OMIM:620282 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo... |
OMIM:618982 |
Agammaglobulinemia 10, Autosomal Dominant |
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Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Immunodeficiency 75 With Lymphoproliferation |
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Recurrent respiratory infections, Follicular hyperplasia, Decreased proportion of class-switched ... |
OMIM:619126 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency 102 |
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Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomeg... |
OMIM:301082 |
Immunodeficiency 21 |
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Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Cerv... |
OMIM:614172 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Immunodeficiency 13 |
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Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia... |
OMIM:618986 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased c... |
ORPHA:397596 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... |
ORPHA:217390 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
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, Common Variable, 3 |
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Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ... |
OMIM:601457 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Hepatome... |
OMIM:301078 |
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 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... |
OMIM:603554 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
Immunodeficiency 17 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
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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Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... |
OMIM:618108 |
Agammaglobulinemia, X-Linked |
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Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
Immunodeficiency 68 |
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Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... |
OMIM:612260 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 92 |
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Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, Leukocytosis, BCGosis, ... |
OMIM:619652 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre... |
OMIM:618048 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... |
OMIM:241600 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... |
OMIM:614700 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l... |
OMIM:619313 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, B lymphocytopenia, Recurrent lower respiratory tract infections, Micropenis, A... |
OMIM:615966 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... |
ORPHA:293978 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... |
ORPHA:508542 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... |
ORPHA:391487 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Recurrent urinary tract infections, Premature ovarian insufficiency,... |
OMIM:251260 |
Alg12-Cdg |
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Recurrent respiratory infections, Hypospadias, Partial absence of specific antibody response to H... |
ORPHA:79324 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Recurrent... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulatin... |
ORPHA:83617 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Gaisböck Syndrome |
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Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |