期刊
CLINICAL IMMUNOLOGY
卷 229, 期 -, 页码 -出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2021.108799
关键词
CGD; HSCT; CYBC1; NADPH; Oxidative burst; Iceland
类别
资金
- Job Research Foundation
Homozygous mutations in CYBC1 have been linked to CGD, with hematopoietic stem cell transplantation as the treatment choice, but experience in transplantation for this subtype of CGD is limited.
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.
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