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GENATLAS PHENOTYPE
last update : 30-03-2020
Symbol SCIDTL
Location 5p13.2
Name severe combined immunodeficiency, lacking T lymphocytes
Corresponding gene IL7R
Main clinical features
  • normal B cells (T-B+NK-)
  • absence of circulating mature T lymphocytes and NK cells, normal to elevated numbers of nonfunctional B lymphocytes, and marked hypoplasia of lymphoid tissues
  • also forms dominated by autoimmune manifestations (PMID: 24759676))
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name interleukin 7 receptor
    Remark(s)