Ontology highlight
ABSTRACT:
SUBMITTER: Angulo I
PROVIDER: S-EPMC3930011 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Angulo Ivan I Vadas Oscar O Garçon Fabien F Banham-Hall Edward E Plagnol Vincent V Leahy Timothy R TR Baxendale Helen H Coulter Tanya T Curtis James J Wu Changxin C Blake-Palmer Katherine K Perisic Olga O Smyth Deborah D Maes Mailis M Fiddler Christine C Juss Jatinder J Cilliers Deirdre D Markelj Gašper G Chandra Anita A Farmer George G Kielkowska Anna A Clark Jonathan J Kracker Sven S Debré Marianne M Picard Capucine C Pellier Isabelle I Jabado Nada N Morris James A JA Barcenas-Morales Gabriela G Fischer Alain A Stephens Len L Hawkins Phillip P Barrett Jeffrey C JC Abinun Mario M Clatworthy Menna M Durandy Anne A Doffinger Rainer R Chilvers Edwin R ER Cant Andrew J AJ Kumararatne Dinakantha D Okkenhaug Klaus K Williams Roger L RL Condliffe Alison A Nejentsev Sergey S
Science (New York, N.Y.) 20131017 6160
Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to infections. Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene. We found E1021K in 17 patients from seven unrelated families, but not among 3346 healthy subjects. APDS was characterized by ...[more]