Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

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, immuno...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2017
Materias:
Immune Deficiencies, Infection, and Systemic Immune Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292996/
https://www.ncbi.nlm.nih.gov/pubmed/27555459
http://dx.doi.org/10.1016/j.jaci.2016.06.021

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