Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the PIK3R1 gene respons...

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Autori principali:	Nidia Moreno-Corona, Loïc Chentout, Lucie Poggi, Romane Thouenon, Cecile Masson, Melanie Parisot, Lou Le Mouel, Capucine Picard, Isabelle André, Marina Cavazzana, Laurence Perrin, Anne Durandy, Saba Azarnoush, Sven Kracker
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2021-06-01
Serie:	Frontiers in Pediatrics
Soggetti:	APDS2 PI3K signaling PIK3R1 primary immunodeficiency neurodevelopmental impact
Accesso online:	https://www.frontiersin.org/articles/10.3389/fped.2021.688022/full
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