Volume 22, Issue 1 e13078
CASE REPORT

Successful second hematopoietic cell transplantation in severe congenital neutropenia

H. Hashem

Corresponding Author

H. Hashem

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

Correspondence

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

Email: [email protected]

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R. Abu-Arja

R. Abu-Arja

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

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J. J. Auletta

J. J. Auletta

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

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H. G. Rangarajan

H. G. Rangarajan

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

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E. Varga

E. Varga

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

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M. J. Rose

M. J. Rose

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

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R. P. S. Bajwa

R. P. S. Bajwa

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

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First published: 26 October 2017
Citations: 6

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.

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