Immundeficiency 31A D84.-

Immunodeficiency 31A syndrome, also known as IMD31A, is caused by autosomal dominant (AD) STAT1 deficiency.

STAT1 is critical for cellular responses to type I and type III interferons. Autosomal dominant STAT1 deficiency selectively affects the IFNG signaling pathway and confers a predisposition to mycobacterial infections. Furthermore, increased susceptibility to herpes simplex encephalitis (HSE) in adulthood has been reported (Mork et al. 2015).

1. Mork N et al (2015) Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. Genes Immun 16: 552-566