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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-04-2020
Symbol TIIAC
Location 20q13.12
Name T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
Corresponding gene STK4
Main clinical features
  • primarily characterized by a progressive loss of naive T cells; consequences including recurrent bacterial and viral infections and autoimmune manifestations
  • primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease