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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Détails bibliographiques
Publié dans:Pediatr Rheumatol Online J
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2021
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8063424/
https://ncbi.nlm.nih.gov/pubmed/33892719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-021-00536-y
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