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Article

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.

Klinische Padiatrie - 1 May 2017

Hauck Fabian, Magg Thomas, Krolo Ana, Bilic Ivan, Hirschmugl Tatjana, Laass Martin, Rösen-Wolff Angela, Luksch Hella, Boztug Kaan, Roesler Joachim

Abstract excerpt

Background Heterozygous point mutations in the GT splice donor consensus sequence of exon 11 of the PIK3R1 gene (coding for p85α, p55α, and p50α regulatory subunits of PI3K) lead to exon skipping and thereby to an aberrant protein that leaves PI3K hyperactivated. Several patients with this particular variant of PI3 kinase delta syndrome (APDS) suffering from sinopulmonary infections and lymphoproliferation have...

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PMID: 28561224
DOI: 10.1055/s-0043-104218

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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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