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GENATLAS PHENOTYPE
last update : 12-09-2017
Symbol IMD48
Location 2q11.2
Name immunodeficiency, severe, combined
Corresponding gene ZAP70
Other symbol(s) ZRK, ZAP70
Main clinical features
  • selective absence of peripheral CD8+ cells, and presence of CD4+ T cells, not responding to TCR mediated stimuli in vitro
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name ZAP70 non receptor tyrosine kinase (ZAP70)
    Remark(s)