Article
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
The Journal of allergy and clinical immunology - 1 Feb 2017
Coulter Tanya I, Chandra Anita, Bacon Chris M, Babar Judith, Curtis James, Screaton Nick, Goodlad John R, Farmer George, Steele Cathal Laurence, Leahy Timothy Ronan, Doffinger Rainer, Baxendale Helen, Bernatoniene Jolanta, Edgar J David M, Longhurst Hilary J, Ehl Stephan, Speckmann Carsten, Grimbacher Bodo, Sediva Anna, Milota Tomas, Faust Saul N, Williams Anthony P, Hayman Grant, Kucuk Zeynep Yesim, Hague Rosie, French Paul, Brooker Richard, Forsyth Peter, Herriot Richard, Cancrini Caterina, Palma Paolo, Ariganello Paola, Conlon Niall, Feighery Conleth, Gavin Patrick J, Jones Alison, Imai Kohsuke, Ibrahim Mohammad A A, Markelj Gašper, Abinun Mario, Rieux-Laucat Frédéric, Latour Sylvain, Pellier Isabelle, Fischer Alain, Touzot Fabien, Casanova Jean-Laurent, Durandy Anne, Burns Siobhan O, Savic Sinisa, Kumararatne D S, Moshous Despina, Kracker Sven, Vanhaesebroeck Bart, Okkenhaug Klaus, Picard Capucine, Nejentsev Sergey, Condliffe Alison M, Cant Andrew James
Abstract excerpt
BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). OBJECTIVE: We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large genetically defined international cohort....
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