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

Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease an Icelandic cohort a patient from Saudi Arabia, by destabilising the dimerisation of gp91phox with p22phox, manifesting phenotypic chronic granulomatous (CGD). Haematopoietic stem cell transplantation is treatment choice CGD, though experience this subtype CGD limited to brief description one patient. We provide clinical transplant data for two brothers due homozygous p.Tyr2Ter CYBC1, demonstrating maintained cure immune defect 11 years post-transplant brother, death peri-transplant period other.