Successful second hematopoietic cell transplantation in severe congenital neutropenia. (26th October 2017)

• Record Type: Journal Article
• Authors: Hashem, H.; Abu‐Arja, R.; Auletta, J. J.; Rangarajan, H. G.; Varga, E.; Rose, M. J.; Bajwa, R. P. S.
• Is Part Of: Pediatric transplantation. Volume 22:Number 1(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2017-10-26
• Subjects: c.1A>G mutation (M1V mutation) -- ELANE -- graft failure -- hematopoietic cell transplantation -- second HCT -- severe congenital neutropenia; Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.13078
• Languages: English
• ISSNs: 1397-3142

Abstract

Abstract: Allogeneic HCT is curative for SCN; however, a standard conditioning regimen or intensity has not been established. We describe a patient with SCN associated with c.1A>G (M1V) mutation in ELANE gene resulting in refractoriness to G‐CSF, who received reduced‐intensity HCT and developed secondary graft failure requiring a second myeloablative HCT. This case suggests that M1V mutation confers a poor G‐CSF response and HCT using the best available donor is beneficial.