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Article

HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.

Clinical immunology (Orlando, Fla.) - 1 Aug 2021

Perez-Heras Iñigo, Tsilifis Christo, Slatter Mary A, Brynjólfsson Siggeir F, Haraldsson Ásgeir, Gennery Andrew R

Abstract excerpt

Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease in an Icelandic cohort and a patient from Saudi Arabia, by destabilising the dimerisation of gp91phox with p22phox, manifesting as phenotypic chronic granulomatous disease (CGD). Haematopoietic stem cell transplantation is the treatment of choice in CGD, though...

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Identifiers

PMID: 34280579
DOI: 10.1016/j.clim.2021.108799

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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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