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

• Egile Nagusiak: Oskar Schnappauf (Egilea), Liane Heale (Egilea), Dilan Dissanayake (Egilea), Wanxia L. Tsai (Egilea), Massimo Gadina (Egilea), Thomas L. Leto (Egilea), Daniel L. Kastner (Egilea), Harry L. Malech (Egilea), Douglas B. Kuhns (Egilea), Ivona Aksentijevich (Egilea), Ronald M. Laxer (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2021-04-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...