Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
Journal of Korean Medical Science
;
: 1646-1649, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-112904
ABSTRACT
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropenia at birth. The peripheral blood showed a markedly decreased absolute neutrophil count, and the bone marrow findings revealed maturation arrest of myeloid precursors at the promyelocyte to myelocyte stage. Her direct DNA sequencing analysis demonstrated an ELANE gene mutation (c.607G > C; p.Gly203Arg), but her parents were negative for it. She showed only transient response after subcutaneous 15 microg/kg/day of granulocyte colony stimulating factor administration for six consecutive days. During the follow-up observation period, she suffered from subsequent seven febrile illnesses including urinary tract infection, septicemia, and cellulitis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Infecciones Bacterianas
/
Secuencia de Bases
/
Factor Estimulante de Colonias de Granulocitos
/
Análisis de Secuencia de ADN
/
Mutación Puntual
/
Elastasa de Leucocito
/
República de Corea
/
Recuento de Leucocitos
/
Linfadenitis
/
Neutropenia
Límite:
Femenino
/
Humanos
/
Lactante
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2011
Tipo del documento:
Artículo
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