Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review
Author:
Funder
ABZUMS
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Immunology and Allergy
Link
http://link.springer.com/content/pdf/10.1007/s12016-019-08738-9.pdf
Reference70 articles.
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2. Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U et al (2014) 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(1):88–97
3. Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P et al (2015) Erratum: a human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest 125(4):1764–1765
4. Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J et al (2014) Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med 211(13):2537–2547
5. Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W et al (2018) The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol 38(1):129–143
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