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Successful second hematopoietic cell transplantation in severe congenital neutropenia

H Hashem1, R Abu-Arja1, J J Auletta1

  • 1Division of Pediatric Hematology/Oncology/BMT, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.

Pediatric Transplantation
|October 28, 2017
PubMed

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:
ELANEc.1A>G mutation (M1V mutation)graft failurehematopoietic cell transplantationsecond HCTsevere congenital neutropenia

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