Inherited p40phox deficiency differs from classic chronic granulomatous disease
Inherited p40phox deficiency differs from classic chronic granulomatous disease
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Full title
Author / Creator
van de Geer, Annemarie , Nieto-Patlán, Alejandro , Kuhns, Douglas B. , Tool, Anton T.J. , 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 J.H. , 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. and Bustamante, Jacinta
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 1...
Alternative Titles
Full title
Inherited p40phox deficiency differs from classic chronic granulomatous disease
Authors, Artists and Contributors
Author / Creator
Nieto-Patlán, Alejandro
Kuhns, Douglas B.
Tool, Anton T.J.
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 J.H.
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6118590
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6118590
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI97116
