Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.


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 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 138 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.1016/j.jaci.2016.03.022
  • Title of Journal : The Journal of allergy and clinical immunology
  • 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

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.