Article
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Clinical immunology (Orlando, Fla.) - 1 Jun 2017
Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R
Abstract excerpt
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.