A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Braz. j. med. biol. res
;
50(4): e5727, 2017. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-839284
ABSTRACT
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Síndrome de Chediak-Higashi
/
Mutación del Sistema de Lectura
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Inglés
Revista:
Braz. j. med. biol. res
Asunto de la revista:
Biologia
/
Medicina
Año:
2017
Tipo del documento:
Artículo
País de afiliación:
China
Institución/País de afiliación:
Hebei Medical University/CN
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