Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

doi:10.1007/s10875-012-9698-8

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Article

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Journal of clinical immunology - 1 Oct 2012

Martel Cécile, Mollin Michelle, Beaumel Sylvain, Brion Jean Paul, Coutton Charles, Satre Véronique, Vieville Gaëlle, Callanan Mary, Lefebvre Christine, Salmon Alexandra, Pagnier Anne, Plantaz Dominique, Bost-Bru Cécile, Eitenschenck Laurence, Durieu Isabelle, Floret Daniel, Galambrun Claire, Chambost Hervé, Michel Gérard, Stephan Jean-Louis, Hermine Olivier, Blanche Stéphane, Blot Nathalie, Rubié Hervé, Pouessel Guillaume, Drillon-Haus Stephanie, Conrad Bernard, Posfay-Barbe Klara M, Havlicekova Zuzana, Voskresenky-Baricic Tamara, Jadranka Kelecic, Arriazu Maria Cristina, Garcia Luis Alberto, Sfaihi Lamia, Mansour Lamia Sfaihi Ben, Bordigoni Pierre, Stasia Marie José

Abstract excerpt

Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investigated 24 CGD patients and their families. Twenty-one mutations in CYBB were classified as X91(0), X91(+) or X91(-) variants according to cytochrome b (558) expression. Point mutations in...

Topics

Child
Child, Preschool
Female
Granulomatous Disease, Chronic
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Membrane Glycoproteins

Mutation

NADPH Oxidase 2

NADPH Oxidases

Source

Open in PubMed

Identifiers

PMID: 22562447
DOI: 10.1007/s10875-012-9698-8

Genes

CYBB
NCF2
CYBA
NCF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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