A human immunodeficiency caused by mutations in the PIK3R1 gene

Recently, patient mutations that activate PI3K signaling have been linked to a primary antibody deficiency. Here, we used whole-exome sequencing and characterized the molecular defects in 4 patients from 3 unrelated families diagnosed with hypogammaglobulinemia and recurrent infections. We identifie...

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Main Authors: Deau, Marie-Céline, Heurtier, Lucie, Frange, Pierre, Suarez, Felipe, Bole-Feysot, Christine, Nitschke, Patrick, Cavazzana, Marina, Picard, Capucine, Durandy, Anne, Fischer, Alain, Kracker, Sven
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2014
Assuntos:
Brief Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4153704/
https://ncbi.nlm.nih.gov/pubmed/25133428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI75746
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