Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis

Loss-of-function (LOF) mutations in NFKB1, coding for p105, may cause common variable immunodeficiency due to dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κΒ) pathway. Monoallelic LOF variants of NFKB1 can predispose to uncontrolled inflammation including steri...

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Detalles Bibliográficos
Autores principales: Santaniemi, Wenny, Åström, Pirjo, Glumoff, Virpi, Pernaa, Nora, Tallgren, Ella-Noora, Palosaari, Sanna, Nissinen, Antti, Kaustio, Meri, Kuismin, Outi, Saarela, Janna, Nurmi, Katariina, Eklund, Kari K., Seppänen, Mikko R. J., Hautala, Timo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276129/
https://www.ncbi.nlm.nih.gov/pubmed/36892687
http://dx.doi.org/10.1007/s10875-023-01461-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276129/
https://www.ncbi.nlm.nih.gov/pubmed/36892687
http://dx.doi.org/10.1007/s10875-023-01461-3

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