Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

• मुख्य लेखकों: Oskar Schnappauf (लेखक), Liane Heale (लेखक), Dilan Dissanayake (लेखक), Wanxia L. Tsai (लेखक), Massimo Gadina (लेखक), Thomas L. Leto (लेखक), Daniel L. Kastner (लेखक), Harry L. Malech (लेखक), Douglas B. Kuhns (लेखक), Ivona Aksentijevich (लेखक), Ronald M. Laxer (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2021-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Biallelic loss-of-function variants in NCF1 lead to reactive oxygen species deficiency and chronic granulomatous disease (CGD). Heterozygosity for the p.Arg90His variant in NCF1 has been associated with susceptibility to systemic lupus erythematosus, rheumatoid arthritis, and Sjo...