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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-09-2017
Symbol IMD47
Location Xq28
Name Immunodeficiency 47
Corresponding gene ATP6AP1
Main clinical features
  • complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins, associated or not with neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities
  • Genetic determination sex linked
    Function/system disorder defense and immunity
    Type disease