Copy For Citation
Elkaim E., Neven B., Bruneau J., Mitsui-Sekinaka K., Stanislas A., Heurtier L., ...More
The Journal of allergy and clinical immunology, vol.138, no.1, 2016 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
138
Issue:
1
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Publication Date:
2016
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Doi Number:
10.1016/j.jaci.2016.03.022
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Journal Name:
The Journal of allergy and clinical immunology
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Keywords:
Primary immunodeficiency, phosphoinositide 3-kinase, p85 alpha, p110 delta, activated phosphoinositide 3-kinase delta syndrome, p110 delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency, hyper-IgM, adenopathy, immunodeficiency, antibody deficiency, HUMAN IMMUNODEFICIENCY, MUTATIONS, KINASE, CELLS
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Bursa Uludag University Affiliated:
Yes
Abstract
Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) 2 (p110 delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85 alpha, p55 alpha, and p50 alpha) of class IA phosphoinositide 3-kinases.