Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature-Reference-Cited by-同舟云学术

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

Published:2016-05-27 Issue:6 Volume:27 Page:640-644
ISSN:0905-6157
Container-title:Pediatric Allergy and Immunology
language:en
Short-container-title:Pediatr Allergy Immunol

Author:

Olbrich Peter¹,Lorenz Myriam²,Cura Daball Paola³,Lucena José Manuel⁴,Rensing-Ehl Anne³,Sanchez Berta⁴,Führer Marita²,Camacho-Lovillo Marisol¹,Melon Marta¹,Schwarz Klaus²⁵,Neth Olaf¹,Speckmann Carsten³⁶

Affiliation:

1. Seccion de Infectología e Inmunopatología; Unidad de Pediatria; Hospital Virgen del Rocío; Sevilla/Instituto de Biomedicina de Sevilla (IBiS); Sevilla Spain

2. The Institute for Transfusion Medicine; University of Ulm; Ulm Germany

3. Center for Chronic Immunodeficiency (CCI); Medical Center - University of Freiburg; Faculty of Medicine; University of Freiburg; Germany

4. Unidad de Inmunología; Hospital Universitario Virgen del Rocío; Sevilla Spain

5. Institute for Clinical Transfusion Medicine and Immunogenetics Ulm; German Red Cross Blood Service; Baden-Württemberg-Hessen; Ulm Germany

6. Center for Pediatrics; Department of Pediatric Hematology and Oncology; Medical Center - University of Freiburg; Faculty of Medicine; University of Freiburg; Germany

Funder

German Federal Ministry of Education and Research

Publisher

Wiley

Subject

Immunology,Immunology and Allergy,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pai.12585/fullpdf

Reference13 articles.

1. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency;Lucas;Nat Immunol,2014

2. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K;Lucas;J Exp Med,2014

3. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage;Angulo;Science,2013