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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.
Author(s): Perez-Heras I, Tsilifis C, Slatter MA, Brynjolfsson SF, Haraldsson A, Gennery AR
Publication type: Article
Publication status: Published
Journal: Clinical Immunology
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.
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