Article
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
The Journal of clinical investigation - 31 Aug 2018
van de Geer Annemarie, Nieto-Patlán Alejandro, Kuhns Douglas B, Tool Anton Tj, Arias Andrés A, Bouaziz Matthieu, de Boer Martin, Franco José Luis, Gazendam Roel P, van Hamme John L, van Houdt Michel, van Leeuwen Karin, Verkuijlen Paul Jh, van den Berg Timo K, Alzate Juan F, Arango-Franco Carlos A, Batura Vritika, Bernasconi Andrea R, Boardman Barbara, Booth Claire, Burns Siobhan O, Cabarcas Felipe, Bensussan Nadine Cerf, Charbit-Henrion Fabienne, Corveleyn Anniek, Deswarte Caroline, Azcoiti María Esnaola, Foell Dirk, Gallin John I, Garcés Carlos, Guedes Margarida, Hinze Claas H, Holland Steven M, Hughes Stephen M, Ibañez Patricio, Malech Harry L, Meyts Isabelle, Moncada-Velez Marcela, Moriya Kunihiko, Neves Esmeralda, Oleastro Matias, Perez Laura, Rattina Vimel, Oleaga-Quintas Carmen, Warner Neil, Muise Aleixo M, López Jeanet Serafín, Trindade Eunice, Vasconcelos Julia, Vermeire Séverine, Wittkowski Helmut, Worth Austen, Abel Laurent, Dinauer Mary C, Arkwright Peter D, Roos Dirk, Casanova Jean-Laurent, Kuijpers Taco W, Bustamante Jacinta
Abstract excerpt
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-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another. When...
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