Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two

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 mo...

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Bibliographic Details
Published in:Clinical immunology (Orlando, Fla.) Fla.), 2017-06, Vol.179, p.77-80
Main Authors: Bravo García-Morato, M, García-Miñaúr, S, Molina Garicano, J, Santos Simarro, F, López-Grandos, E, Ferreira Cerdán, A, Rodríguez Pena, R
Format: Article
Language:English
Subjects:
Allergy and Immunology
Child
Class I Phosphatidylinositol 3-Kinases - genetics
Genetic diagnosis
Growth Disorders - genetics
Humans
Hypercalcemia - genetics
Immunologic Deficiency Syndromes - genetics
Infant
Male
Metabolic Diseases - genetics
Mutation
Nephrocalcinosis - genetics
Phosphatidylinositol 3-Kinases - genetics
Primary immunodeficiencies
SHORT syndrome
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Summary: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.
ISSN:1521-6616
1521-7035
DOI:10.1016/j.clim.2017.03.004