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

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

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 Sjö...

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Detaylı Bibliyografya
Asıl Yazarlar: Oskar Schnappauf, Liane Heale, Dilan Dissanayake, Wanxia L. Tsai, Massimo Gadina, Thomas L. Leto, Daniel L. Kastner, Harry L. Malech, Douglas B. Kuhns, Ivona Aksentijevich, Ronald M. Laxer
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: BMC 2021-04-01
Seri Bilgileri:Pediatric Rheumatology Online Journal
Konular:
Autoinflammation
Autoimmunity
Interferons
Systemic lupus erythematosus
NCF1
Online Erişim:https://doi.org/10.1186/s12969-021-00536-y

Internet

https://doi.org/10.1186/s12969-021-00536-y

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