Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.
Sign Up to like & getrecommendations! Published in 2022 at "Allergologia et immunopathologia"
DOI: 10.15586/aei.v50i4.510
Abstract: 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… read more here.
Keywords: apds2; features short; clinical immunological; penetrance ... See more keywords