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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Detalhes bibliográficos
Publicado no:Pediatr Rheumatol Online J
Principais autores: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Case Report
Acesso em linha: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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