Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

ABSTRACT:

Background

Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic.

Methods

The genetic and clinical features of Chinese patients with AGS were collected. Real-time polymerase chain reaction was used to detect expression of interferon-stimulated genes (ISGs).

Results

A total of 23 cases were included, consisting of 7 cases of AGS1 with three prime repair exonuclease 1 mutations, 3 of AGS2 with ribonuclease H2 subunit B (RNASEH2B) mutations, 3 o

SUBMITTER: Wang W 

PROVIDER: S-EPMC9205831 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature