A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase

作者：Wu, X. L.; Zhao, X. Q.; Zhang, B. X.; Xuan, F.; Guo, H. M.; Ma, F. T.^*

来源：Brazilian Journal of Medical and Biological Research, 2017, 50(4): e5727.

DOI：10.1590/1414-431X20165727

• Chediak-Higashi syndrome
• Accelerated phase
• Gene sequencing
• Therapy

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.

• 出版日期2017
• 单位河北医科大学