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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 31-08-2017
Symbol IMD13
Location 17q11.2
Name Immunodeficiency 13
Corresponding gene UNC119
Main clinical features
  • idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    defense and immunity
    Type disease
    Remark(s)