| Literature DB >> 28302518 |
M Bravo García-Morato1, S García-Miñaúr2, J Molina Garicano3, F Santos Simarro2, L Del Pino Molina4, E López-Granados4, A Ferreira Cerdán4, R Rodríguez Pena4.
Abstract
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 recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists.Entities:
Keywords: Genetic diagnosis; Primary immunodeficiencies; SHORT syndrome
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Year: 2017 PMID： 28302518 DOI： 10.1016/j.clim.2017.03.004
Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969