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A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Wu, XL; Zhao, XQ; Zhang, BX; Xuan, F; Guo, HM; Ma, FT.
Afiliação
  • Wu, XL; Hebei Medical University. Department of Pediatric Hematology-Oncology. CN
  • Zhao, XQ; Hebei Medical University. Department of Pediatric Hematology-Oncology. CN
  • Zhang, BX; Hebei Medical University. Department of Pediatric Hematology-Oncology. CN
  • Xuan, F; Hebei Medical University. Department of Pediatric Hematology-Oncology. CN
  • Guo, HM; Hebei Medical University. Department of Pediatric Hematology-Oncology. CN
  • Ma, FT; Hebei Medical University. Department of Pediatric Hematology-Oncology. CN
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;50(4): e5727, 2017. tab, graf
Article em En | LILACS | ID: biblio-839284
Biblioteca responsável: BR1.1
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Assunto principal: Síndrome de Chediak-Higashi / Mutação da Fase de Leitura Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Braz. j. med. biol. res / Rev. bras. pesqui. méd. biol Assunto da revista: BIOLOGIA / MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Assunto principal: Síndrome de Chediak-Higashi / Mutação da Fase de Leitura Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Braz. j. med. biol. res / Rev. bras. pesqui. méd. biol Assunto da revista: BIOLOGIA / MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Brasil