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

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 Sjögren’s s...

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Detalles Bibliográficos
Autores principales: Schnappauf, Oskar, Heale, Liane, Dissanayake, Dilan, Tsai, Wanxia L., Gadina, Massimo, Leto, Thomas L., Kastner, Daniel L., Malech, Harry L., Kuhns, Douglas B., Aksentijevich, Ivona, Laxer, Ronald M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063424/
https://www.ncbi.nlm.nih.gov/pubmed/33892719
http://dx.doi.org/10.1186/s12969-021-00536-y

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