Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF.
J Pediatr Hematol Oncol
; 41(3): e190-e192, 2019 Apr.
Article
em En
| MEDLINE
| ID: mdl-30028820
ABSTRACT
Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator Estimulador de Colônias de Granulócitos
/
Receptores de Fator Estimulador de Colônias
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Mutação
Limite:
Child
/
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article