Germline-activating mutations in PIK3CD compromise B cell development and function.

doi:10.1084/jem.20180010

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Article

Germline-activating mutations in PIK3CD compromise B cell development and function.

The Journal of experimental medicine - 6 Aug 2018

Avery Danielle T, Kane Alisa, Nguyen Tina, Lau Anthony, Nguyen Akira, Lenthall Helen, Payne Kathryn, Shi Wei, Brigden Henry, French Elise, Bier Julia, Hermes Jana R, Zahra David, Sewell William A, Butt Danyal, Elliott Michael, Boztug Kaan, Meyts Isabelle, Choo Sharon, Hsu Peter, Wong Melanie, Berglund Lucinda J, Gray Paul, O'Sullivan Michael, Cole Theresa, Holland Steven M, Ma Cindy S, Burkhart Christoph, Corcoran Lynn M, Phan Tri Giang, Brink Robert, Uzel Gulbu, Deenick Elissa K, Tangye Stuart G

Abstract excerpt

Gain-of-function (GOF) mutations in PIK3CD, encoding the p110δ subunit of phosphatidylinositide 3-kinase (PI3K), cause a primary immunodeficiency. Affected individuals display impaired humoral immune responses following infection or immunization. To establish mechanisms underlying these immune defects, we studied a large cohort of patients with PIK3CD GOF mutations and established a novel mouse model using...

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Identifiers

PMID: 30018075
DOI: 10.1084/jem.20180010
PMCID: PMC6080914

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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