Inherited p40phox deficiency differs from classic chronic granulomatous disease

Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-o...

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Bibliographic Details
Main Author: van de Geer, A. (author)
Other Authors: Nieto-Patlán, A. (author), Kuhns, D. (author), Tool, A. (author), Arias, A. (author), Bouaziz, M. (author), de Boer, M. (author), Franco, J. (author), Gazendam, R. (author), van Hamme, J. (author), van Houdt, M. (author), van Leeuwen, K. (author), Verkuijlen, P. (author), van den Berg, T. (author), Alzate, J. (author), Arango-Franco, C. (author), Batura, V. (author), Bernasconi, A. (author), Boardman, B. (author), Booth, C. (author), Burns, S. (author), Cabarcas, . (author), Bensussan, N. (author), Charbit-Henrion, F. (author), Corveleyn, A. (author), Deswarte, C. (author), Azcoiti, M. (author), Foell, D. (author), Gallin, J. (author), Garcés, C. (author), Guedes, M. (author), Hinze, C. (author), Holland, S. (author), Hughes, S. (author), Ibañez, P. (author), Malech, H. (author), Meyts, I. (author), Moncada-Velez, M. (author), Moriya, K. (author), Neves, E. (author), Oleastro, M. (author), Perez, L. (author), Rattina, V. (author), Oleaga-Quintas, C. (author), Warner, N. (author), Muise, A. (author), López, J. (author), Trindade, E. (author), Vasconcelos, J. (author), Vermeire, S. (author), Wittkowski, H. (author), Worth, A. (author), Abel, L. (author), Dinauer, M. (author), Arkwright, P. (author), Roos, D. (author), Casanova, J.t (author), Kuijpers, T. (author), Bustamante, J. (author)
Format: article
Language:eng
Published: 2019
Subjects:
Genetics
Immunology
Inflammatory bowel disease
Macrophages
Neutrophils
Online Access:http://hdl.handle.net/10400.16/2297
Country:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2297

Internet

http://hdl.handle.net/10400.16/2297

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