PI3Kδ and primary immunodeficiencies-Reference-Cited by-同舟云学术

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PI3Kδ and primary immunodeficiencies

Published:2016-09-12 Issue:11 Volume:16 Page:702-714
ISSN:1474-1733
Container-title:Nature Reviews Immunology
language:en
Short-container-title:Nat Rev Immunol

Author:

Lucas Carrie L.,Chandra Anita,Nejentsev Sergey,Condliffe Alison M.,Okkenhaug Klaus

Publisher

Springer Science and Business Media LLC

Subject

Energy Engineering and Power Technology,Fuel Technology

Link

http://www.nature.com/articles/nri.2016.93.pdf

Reference91 articles.

1. Angulo, I. et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science 342, 866–871 (2013).

2. Lucas, C. L. et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat. Immunol. 15, 88–97 (2014). References 1 and 2 are the first papers showing that activated mutations in PIK3CD cause the PID APDS.

3. Deau, M. C. et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J. Clin. Invest. 124, 3923–3928 (2014).

4. Lucas, C. L. et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J. Exp. Med. 211, 2537–2547 (2014). References 3 and 4 are the first papers showing that activating mutations in PIK3R1 cause the PID APDS2.

5. Elgizouli, M. et al. Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency. Clin. Exp. Immunol. 183, 221–229 (2016).

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