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GENATLAS PHENOTYPE
last update : 30-08-2017
Symbol IMD8
Location 16p11.2
Name Immunodeficiency 8
Corresponding gene CORO1A
Main clinical features
  • primary immunodeficiency characterized by early-onset recurrent infections
  • decreased numbers of lymphocytes, poor T-cell function with decreased proliferative response and lack of helper T-cell function for antibody isotype switching, and low immunoglobulins. B and NK cells were normal.
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)