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GENATLAS PHENOTYPE
last update : 01-09-2017
Symbol SCIDTE
Location 11q23.3
Name severe combined immunodeficiency lacking T cells
Corresponding gene CD3E
Main clinical features
  • defective cellular and humoral immune function, in infancy recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Remark(s)