Article
A human immunodeficiency caused by mutations in the PIK3R1 gene.
The Journal of clinical investigation - 1 Sept 2014
Deau Marie-Céline, Heurtier Lucie, Frange Pierre, Suarez Felipe, Bole-Feysot Christine, Nitschke Patrick, Cavazzana Marina, Picard Capucine, Durandy Anne, Fischer Alain, Kracker Sven
Abstract excerpt
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 identified 2 different heterozygous splice site mutations that affect the same splice site in PIK3R1, which encodes the p85α...
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