Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

Genetic mutations cause primary immunodeficiencies (PIDs), which predispose to infections. Here we describe Activated PI3K-δ Syndrome (APDS), a PID associated with a dominant gain-of-function mutation E1021K in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded...

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Detalhes bibliográficos
Principais autores: 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, Cant, Andrew J., Kumararatne, Dinakantha, Okkenhaug, Klaus, Williams, Roger L., Condliffe, Alison, Nejentsev, Sergey
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3930011/
https://ncbi.nlm.nih.gov/pubmed/24136356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1243292
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