Data/hora: 13/06/2024 17:47:35

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