The Journal of allergy and clinical immunology, vol.138, no.1, 2016 (Journal Indexed in SCI Expanded)
Article / Article
Title of Journal :
The Journal of allergy and clinical immunology
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
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.