Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ... |
OMIM:618987 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 62 |
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Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Cernunnos-Xlf Deficiency |
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Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... |
OMIM:601457 |
Immunodeficiency 57 With Autoinflammation |
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Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... |
OMIM:618108 |
Immunodeficiency 76 |
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Splenomegaly, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
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 102 |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Aut... |
OMIM:301082 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Failure to th... |
ORPHA:277 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Short stature, Splenomegaly, Chronic lymphatic leukemia, Growth delay, Increased cir... |
OMIM:616005 |
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 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, Failure to thrive in infancy, Growth delay, Decreased circulating total IgM, T lymph... |
OMIM:619510 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Thro... |
OMIM:619281 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Splenomegaly, Absent circulating B cells, Decreased circulating IgG level, Complete... |
OMIM:620282 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
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, 1 |
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Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... |
OMIM:607594 |
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 |
Activated Pi3K-Delta Syndrome |
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Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level, B lymphocyto... |
ORPHA:397596 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto... |
OMIM:614069 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
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, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
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 43 |
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Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE l... |
OMIM:602450 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Bone marrow hypocellu... |
OMIM:301078 |
Leukodystrophy, Hypomyelinating, 24 |
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Severe short stature, B lymphocytopenia |
OMIM:619851 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, Chronic neutropenia, Autoimmune thr... |
OMIM:614700 |
Immunodeficiency 68 |
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T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Agammaglobulinemia 1, Autosomal Recessive |
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Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... |
OMIM:601495 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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Intrauterine growth retardation, Abnormal natural killer cell morphology, B lymphocytopenia, T ly... |
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 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... |
OMIM:620133 |
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 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Leukopenia, B lymp... |
ORPHA:508542 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... |
OMIM:620005 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased circulating a... |
ORPHA:293978 |
Agammaglobulinemia, X-Linked |
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Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... |
OMIM:300755 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Abnormal T cell subset distribution, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:221139 |
Alg12-Cdg |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Postnatal growth retardation, Decreased circulating total IgM, B lympho... |
ORPHA:83617 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Absent circulating B cells, Panhypogammaglobulinemia, Short stature, Delayed puberty |
OMIM:307200 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... |
ORPHA:391487 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, T lymphocytopenia, B lymphocyto... |
OMIM:251260 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Weight loss... |
OMIM:619381 |