Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation.
J Pediatr Hematol Oncol
; 40(6): e383-e388, 2018 08.
Article
em En
| MEDLINE
| ID: mdl-29189513
ABSTRACT
Emberger syndrome with underlying guanine-adenine-thymine-adenine 2 (GATA2) mutation is a rare disorder and very few successful nonmyeloablative allogeneic hematopoietic stem cell transplants (HSCTs) have been reported. We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome. Her sister had died of a similar illness. She underwent a nonmyeloablative matched related donor peripheral blood HSCT with rabbit antithymoglobulin (5 mg/kg), fludarabine (160 mg/m), cyclophophamide (29 mg/kg), and total body irradiation (2 Gray). Graft versus host disease prophylaxis consisted of tacrolimus and mycophenolate moefetil. She had neutrophil engraftment on day+15 and fully donor chimerism by day+30. She developed limited chronic skin graft versus host disease on tapering off immunosuppression. She is disease free on day+475. The review of literature showed a total of 28 patients with GATA2 mutation have undergone HSCT mostly nonmyeloablative and overall survival is 75%. Nonmyeloablatove HSCT is feasible and safe for the patients with GATA2 mutation.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
1_ASSA2030
Base de dados:
MEDLINE
Assunto principal:
Condicionamento Pré-Transplante
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Transplante de Células-Tronco de Sangue Periférico
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Fator de Transcrição GATA2
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Deficiência de GATA2
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Mutação
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Ano de publicação:
2018
Tipo de documento:
Article