[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome]

Zhonghua Er Ke Za Zhi. 2019 Dec 2;57(12):963-965. doi: 10.3760/cma.j.issn.0578-1310.2019.12.015.
[Article in Chinese]

Abstract

1例10月龄男性主诉为"发热2周余，皮疹1 d"的患儿就诊血液科，患儿头发灰黄，局部皮肤色素脱失，肝脾肿大，EB病毒活动性感染，骨髓粒细胞见包涵体，全外显子测序发现，患儿存在LYST基因c.7645C>T（p.Q2549X）纯合变异，为未报道过的新变异，同时检出家系8位成员为携带者，呈常染色体隐性遗传，确诊为Chediak-Higashi综合征（CHS）。CHS属于溶酶体功能缺陷的原发性免疫缺陷病，预后不良，异基因造血干细胞移植可改善免疫功能缺陷。.

Publication types

  • Case Reports

MeSH terms

  • Chediak-Higashi Syndrome* / genetics
  • Humans
  • Mutation
  • Vesicular Transport Proteins / genetics*

Substances

  • LYST protein, human
  • Vesicular Transport Proteins