Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

Inborn errors of immunity cause monogenic immune dysregulatory conditions such as severe and recurrent pathogen infection, inflammation, allergy, and malignancy. Somatic reversion refers to the spontaneous repair of a pathogenic germline genetic variant and has been reported to occur in a number of...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Pillay, Bethany A., Fusaro, Mathieu, Gray, Paul E., Statham, Aaron L., Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, De Villartay, Jean-Pierre, Ziegler, John B., Smart, Joanne M., Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart G., Ma, Cindy S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7843233/
https://ncbi.nlm.nih.gov/pubmed/33290277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI142434
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