Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.
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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
Acne agminata: dermoscopic features and a short review.
Sign Up to like & getrecommendations! Published in 2022 at "Dermatology online journal"
DOI: 10.5070/d328659725
Abstract: Acne agminata is a rare idiopathic inflammatory dermatosis. Treatment is variable with no clear consensus. We herein report a case of a 31-year-old man with sudden onset papulonodular eruptions on his face over two months.… read more here.
Keywords: agminata dermoscopic; acne agminata; features short; acne ... See more keywords