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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06-09-2017
Symbol IMD40
Location 5q35.1
Name Immunodeficiency 40
Corresponding gene DOCK2
Main clinical features
  • primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function; onset of severe invasive bacterial and viral infections in early childhood
  • invasive bacterial and viral infections associated with T-cell lymphopenia
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)