Abstract: Objective To report a case of Aicardi-Goutières syndrome type 7 (AGS7) in China and summarize the clinical characteristics of cases previously reported in other countries. Methods The clinical manifestations, the expression of type I interferon stimulated genes and results of whole-exome sequencing (WES) were retrospectively analyzed. We searched AGS7 caused by the mutation of IFIH1 or MDA5 in the databases of PubMed, Wanfang and CNKI. Clinical features and gene mutation spectrum were summarized. Results A 3-year-old boy experienced recurrent rash for more than 2 years since age of 6 months. Further assessment identified growth retardation, abnormal liver function, decreased white blood cells, increased erythrocyte sedimentation rate, basal ganglia calcification, leukodystrophy, pulmonary interstitial disease, subclinical hypothyroidism, and increased expression of interferon stimulated genes. WES revealed a de novo, heterozygous mutation in the IFIH1 gene(c.1016C>A, p.Ala339Asp). The diagnosis of AGS7 was made. Our literature review included 15 publications. A total of 31 patients, including our case, were reported. AGS7 could be characterized by myodystonia, paralysis, developmental backwardness, skin lesions, as well as abnormal auxiliary examination results, such as cytopenia, hypohepatia, thyroid dysfunction, intracranial calcification, leukoencephalopathy and encephalatrophy. A total of 17 pathogenic variants were reported in 31 cases, including 16 missense mutations and 1 nonsense mutation. But a well targeted relationship between genotype and phenotype was not found. It is not a self-limited disease. Five patients (15%.1) died of as cardiopulmonary complications, hemophagocytic syndrome, cirrhosis or pancreatitis. Conclusion AGS7 is a type I interferonopathies characterized by regression of development, and involvement of multiple organs, such as nervous system, blood, thyroid gland, liver, spleen and so on.

Key words: Aicardi-Goutières syndrome type 7, Type Ⅰ interferon-related disease, Clinical features