Article
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Science (New York, N.Y.) - 15 Nov 2013
Angulo Ivan, Vadas Oscar, Garçon Fabien, Banham-Hall Edward, Plagnol Vincent, Leahy Timothy R, Baxendale Helen, Coulter Tanya, Curtis James, Wu Changxin, Blake-Palmer Katherine, Perisic Olga, Smyth Deborah, Maes Mailis, Fiddler Christine, Juss Jatinder, Cilliers Deirdre, Markelj Gašper, Chandra Anita, Farmer George, Kielkowska Anna, Clark Jonathan, Kracker Sven, Debré Marianne, Picard Capucine, Pellier Isabelle, Jabado Nada, Morris James A, Barcenas-Morales Gabriela, Fischer Alain, Stephens Len, Hawkins Phillip, Barrett Jeffrey C, Abinun Mario, Clatworthy Menna, Durandy Anne, Doffinger Rainer, Chilvers Edwin R, Cant Andrew J, Kumararatne Dinakantha, Okkenhaug Klaus, Williams Roger L, Condliffe Alison, Nejentsev Sergey
Abstract excerpt
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...
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