Advance in the immunodeficiency-centromeric instability-facial anomalies syndrome
10.3760/cma.j.cn101070-20211029-01279
- VernacularTitle:免疫缺陷－着丝粒不稳定－面部异常综合征研究进展
- Author:
Li LIN
1
;
Jinqiao SUN
Author Information
1. 四川大学华西第二医院小儿呼吸免疫科/出生缺陷与相关妇儿疾病教育部重点实验室，成都 610041
- Keywords:
Primary immunodeficiency;
Immunodeficiency-centromeric instability-facial anomalies syndrome;
DNA methylation;
DNMT3B gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(3):237-240
- CountryChina
- Language:Chinese
-
Abstract:
The immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is the only known human genetic disease involving DNA methylation defects.About 50% of the cases are caused by the compound heterozygous mutation of DNMT3B gene.About a hundred cases were reported in the world, but only a few cases came from China.There may be a misdiagnosis and missed diagnosis.To the best of our knowledge, no Chinese article systematically discusses the ICF syndrome.This paper aims to review the possible mechanisms, clinical manifestations, genetic characteristics, treatment, and prognosis of the ICF syndrome, and to improve Chinese doctors′ knowledge about this disease.
