Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two-Reference-Cited by-同舟云学术

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

Published:2017-06 Issue: Volume:179 Page:77-80
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

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.

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference16 articles.

1. PI3Kδ and primary immunodeficiencies;Lucas;Nat. Rev. Immunol.,2016

2. A human immunodeficiency caused by mutations in the PIK3R1 gene;Deau;J. Clin. Invest.,2015

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

4. Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype;Lougaris;Clin. Immunol.,2015

5. De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly;Kuhlen;Clin. Immunol.,2016

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