Successful second hematopoietic cell transplantation in severe congenital neutropenia

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.

Keywords: ELANE; c.1A>G mutation (M1V mutation); graft failure; hematopoietic cell transplantation; second HCT; severe congenital neutropenia.