Ontology highlight
ABSTRACT:
SUBMITTER: Lougaris V
PROVIDER: S-EPMC9543808 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Lougaris Vassilios V Cancrini Caterina C Rivalta Beatrice B Castagnoli Riccardo R Giardino Giuliana G Volpi Stefano S Leonardi Lucia L La Torre Francesco F Federici Silvia S Corrente Stefania S Cinicola Bianca Laura BL Soresina Annarosa A Marseglia Gian Luigi GL Cardinale Fabio F
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 20220101
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a recently described form of inborn error of immunity (IEI) caused by heterozygous mutations in PIK3CD or PIK3R1 genes, respectively, encoding leukocyte-restricted catalytic p110δ subunit and the ubiquitously expressed regulatory p85 α subunit of the phosphoinositide 3-kinase δ (PI3Kδ). The first described patients with respiratory infections, hypogammaglobulinemia with normal to elevated IgM serum levels, lymphopenia, and lymphoprolif ...[more]