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Article

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

Journal of clinical immunology - 1 Aug 2016

Ben-Farhat Khaoula, Ben-Mustapha Imen, Ben-Ali Meriem, Rouault Karen, Hamami Saber, Mekki Najla, Ben-Chehida Amel, Larguèche Beya, Fitouri Zohra, Abdelmoula Selim, Khemiri Monia, Guediche Mohamed-Neji, Boukthir Samir, Barsaoui Sihem, Chemli Jalel, Barbouche Mohamed-Ridha

Abstract excerpt

Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder caused by genetic defects in one of the five genes encoding the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase subunits of phagocytes. Mutations causing the most prevalent form of CGD in western populations are located in the X-linked-CYBB gene. The four remaining autosomal recessive (AR) forms...

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Identifiers

PMID: 27220316
DOI: 10.1007/s10875-016-0299-9

Genes

NCF2
CYBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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