Volume 21, Issue 7 e13040
ORIGINAL ARTICLE

Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience

Baris Kuskonmaz

Corresponding Author

Baris Kuskonmaz

Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

Correspondence

Baris Kuskonmaz, Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Email: [email protected]

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Deniz Ayvaz

Deniz Ayvaz

Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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Muge Gokce

Muge Gokce

Division of Hematology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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Tuba Turul Ozgur

Tuba Turul Ozgur

Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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Fatma V. Okur

Fatma V. Okur

Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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Mualla Cetin

Mualla Cetin

Division of Hematology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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Ilhan Tezcan

Ilhan Tezcan

Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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Duygu Uckan Cetinkaya

Duygu Uckan Cetinkaya

Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

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First published: 23 August 2017
Citations: 12

Abstract

GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013. The median age of the patients at transplant was 13.5 months (range, 6-58 months). All of the patients developed HLH before HSCT and received HLH 94 or HLH 2004 protocols. Donors were HLA-identical relatives in 8 patients, HLA-mismatched relatives in 2 patients. Engraftment was achieved in all except one patient. None of the patients developed acute GVHD. Chronic GVHD occurred in one and veno-occlusive disease occurred in four patients. Eight of the patients are under remission without any neurologic sequelae—median time of disease-free survival is 92.4 months. The present study shows successful transplant outcome without long-term neurologic sequelae in patients with GS2 who underwent HSCT from HLA-related donors.

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