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Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.

Allergologia et immunopathologia - 1 Jan 2022

Szczawińska-Popłonyk Aleksandra, Bernat-Sitarz Katarzyna, Schwartzmann Eyal, Piechota Michał, Badura-Stronka Magdalena

Abstract excerpt

Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (PIK3R1) gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of phosphoinositide--3-kinase δ (PI3Kδ) cause the activated PI3K δ syndrome (APDS2). APDS2 is defined as a primary antibody deficiency, developmental abnormalities within the B and T lymph cell compartments, and immune dysregulation. The genetic...

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PMID: 35789397
DOI: 10.15586/aei.v50i4.510

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Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.PMID 35789397Read ↗

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