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GENATLAS PHENOTYPE
last update : 17-11-2015
Symbol SCIDP
Location 14q21.3
Name severe combined immunodeficiency with POLE2 defect
Corresponding gene POLE2
Main clinical features
  • combined immunodeficiency, facial dysmorphisms, and autoimmunity
  • omphalitis and erythroderma in the neonatal period, systemic Bacillus Calmette-Guerin infection after immunization, and multiple respiratory infections subsequently
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)