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GENATLAS PHENOTYPE
last update : 04-09-2017
Symbol IMD25
Location 1q24.2
Name Immunodeficiency 25
Corresponding gene CD247
Main clinical features
  • primary T-cell immunodeficiency with impaired immune response to alloantigens, tetanus toxoid, and mitogens
  • erythroderma, protracted diarrhea, and pulmonary abscesses, recurrent episodes of herpes simplex virus infection of the mouth and skin, pulmonary infections; T-cell counts were very low, B-cell counts were normal, and there was eosinophilia
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)