Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

BACKGROUND: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. OBJECTIVE: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource–Rare Diseases cohort. METHODS: In the predominantly European study population of princi...

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Detalles Bibliográficos
Autores principales: Tuijnenburg, Paul, Lango Allen, Hana, Burns, Siobhan O., Greene, Daniel, Jansen, Machiel H., Staples, Emily, Stephens, Jonathan, Carss, Keren J., Biasci, Daniele, Baxendale, Helen, Thomas, Moira, Chandra, Anita, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., Oksenhendler, Eric, Simeoni, Ilenia, de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Tuna, Salih, Whitehorn, Deborah, Brown, Matthew, Turro, Ernest, Thrasher, Adrian J., Smith, Kenneth G.C., Thaventhiran, James E., Kuijpers, Taco W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148345/
https://www.ncbi.nlm.nih.gov/pubmed/29477724
http://dx.doi.org/10.1016/j.jaci.2018.01.039

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