Successful second hematopoietic cell transplantation in severe congenital neutropenia

Pediatric Transplantation
H HashemR P S Bajwa

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.

References

Feb 25, 2006·Blood·Philip S RosenbergUNKNOWN Severe Chronic Neutropenia International Registry
Jul 20, 2007·Pediatric Blood & Cancer·Jecko ThachilRussell Keenan
Mar 25, 2010·Pediatric Transplantation·Koichi OshimaUNKNOWN Hematopoietic Stem Cell Transplantation Committee of the Japanese Society of Pediatric Hematology
Nov 13, 2010·Pediatric Blood & Cancer·G CarlssonH Hägglund
Mar 7, 2013·Human Mutation·Manuela GermeshausenMatthias Ballmaier
Nov 27, 2014·Current Opinion in Hematology·Vahagn MakaryanDavid C Dale
Jul 18, 2015·Blood·Francesca FioreddaUNKNOWN Severe Aplastic Anemia the Inborn Error, and the Pediatric Disease Working Parties of the European Society for Blood and Bon

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