Article
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141.
Science immunology - 25 Nov 2022
Naesens Leslie, Muppala Santoshi, Acharya Dhiraj, Nemegeer Josephine, Bogaert Delfien, Lee Jung-Hyun, Staes Katrien, Debacker Veronique, De Bleser Pieter, De Bruyne Marieke, De Baere Elfride, van Gent Michiel, Liu GuanQun, Lambrecht Bart N, Staal Jens, Kerre Tessa, Beyaert Rudi, Maelfait Jonathan, Tavernier Simon J, Gack Michaela U, Haerynck Filomeen
Abstract excerpt
Herpes simplex virus 1 (HSV-1) infects several billion people worldwide and can cause life-threatening herpes simplex encephalitis (HSE) in some patients. Monogenic defects in components of the type I interferon system have been identified in patients with HSE, emphasizing the role of inborn errors of immunity underlying HSE pathogenesis. Here, we identify compound heterozygous loss-of-function mutations in the...
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