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

Lookup NU author(s): Dr Christo TsilifisORCiD, Dr Mary Slatter, Professor Andrew GenneryORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2021 Elsevier Inc.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 experience of transplantation in this subtype of CGD is limited to a brief description in one patient. We provide clinical and transplant data for two Icelandic brothers with CGD due to homozygous p.Tyr2Ter mutations in CYBC1, demonstrating maintained cure of the immune defect 11 years post-transplant in one brother, and death in the peri-transplant period for the other.

Publication metadata

Author(s): Perez-Heras I, Tsilifis C, Slatter MA, Brynjolfsson SF, Haraldsson A, Gennery AR

Publication type: Article

Publication status: Published

Journal: Clinical Immunology

Year: 2021

Volume: 229

Print publication date: 01/08/2021

Online publication date: 16/07/2021

Acceptance date: 14/07/2021

Date deposited: 09/12/2021

ISSN (print): 1521-6616

ISSN (electronic): 1521-7035

Publisher: Academic Press Inc.


DOI: 10.1016/j.clim.2021.108799


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