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Severe Combined Immunodeficiency

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Definition: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).     
Examples X-Linked Combined Immunodeficiency Diseases 		Other names Syndromes, Bare Lymphocyte; Syndrome, Omenn's; Syndrome, Omenn; Syndrome, Bare Lymphocyte; Severe Combined Immunodeficiencies; Reticuloendothelioses, Familial; Omenns Syndrome; Lymphocyte Syndromes, Bare; Lymphocyte Syndrome, Bare; Immunodeficiencies, Severe Combined; Familial Reticuloendotheliosis; Familial Reticuloendothelioses; Combined Immunodeficiency, Severe; Combined Immunodeficiencies, Severe; Bare Lymphocyte Syndromes; Severe Combined Immunologic Deficiency; Severe Combined Immunodeficiency Syndrome; Reticuloendotheliosis, Familial; Omenn's Syndrome; Immunologic Deficiency, Severe Combined
 
SubstanceCAS Registry & nameCategoriesSource
Immune dysfunction with T-cell inactivation due to calcium entry defect 2  0   *Severe Combined Immunodeficiency.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1  0   *Severe Combined Immunodeficiency.
Reticuloendotheliosis, familial, with eosinophilia  0   *Eosinophilia *Severe Combined Immunodeficiency.
HLA class 1 deficiency  0   *Severe Combined Immunodeficiency.
Reticuloendotheliosis, X-linked  0   *Severe Combined Immunodeficiency *Genetic Diseases, X-Linked.
Reticular dysgenesis  0   *Leukopenia *Severe Combined Immunodeficiency.
Severe combined immunodeficiency, atypical  0   *Severe Combined Immunodeficiency.
Severe combined immunodeficiency with sensitivity to ionizing radiation  0   *Severe Combined Immunodeficiency.
Bare lymphocyte syndrome 2  0   *Severe Combined Immunodeficiency.
Athabaskan severe combined immunodeficiency  0   *Severe Combined Immunodeficiency.
T-cell immunodeficiency, congenital alopecia and nail dystrophy  0   *Alopecia *Nail Diseases *Severe Combined Immunodeficiency.
ZAP70 deficiency  0   *Severe Combined Immunodeficiency ZAP-70 Protein-Tyrosine Kinase/deficiency.
Severe combined immunodeficiency due to adenosine deaminase deficiency  0   *Agammaglobulinemia *Severe Combined Immunodeficiency Adenosine Deaminase/deficiency.
RFXANK protein, human  0   *Transcription Factors Ankyrins Severe Combined Immunodeficiency. Immunity 1999 Feb;10(2):153-62
pegademase bovine  EC 3.5.4.-   *Adenosine Deaminase Drug Carriers Severe Combined Immunodeficiency. N Engl J Med 1987;316(10):589ADAGEN

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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