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...

Descripción completa

Detalles Bibliográficos
Autores principales: Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266209/
https://www.ncbi.nlm.nih.gov/pubmed/34249818
http://dx.doi.org/10.3389/fped.2021.688022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266209/
https://www.ncbi.nlm.nih.gov/pubmed/34249818
http://dx.doi.org/10.3389/fped.2021.688022

Ejemplares similares