Data/hora: 07/06/2024 01:56:51

Provedor de dados: 	56	
País: 	Brazil	
Título: 	A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase	
Autores: 	Wu,X.L.; Zhao,X.Q.; Zhang,B.X.; Xuan,F.; Guo,H.M.; Ma,F.T.	
Data: 	2017-01-01	
Ano: 	2017	
Palavras-chave: 	Chediak-Higashi syndrome; Accelerated phase; Gene sequencing; Therapy.	
Resumo: 	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.	
Tipo: 	Info:eu-repo/semantics/report	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000400501	
Editor: 	Associação Brasileira de Divulgação Científica	
Relação: 	10.1590/1414-431x20165727	
Formato: 	text/html	
Fonte: 	Brazilian Journal of Medical and Biological Research  v.50 n.4 2017	
Fonte: 	info:eu-repo/semantics/openAccess