Genetic analysis identified novel compound heterozygous pathogenic variants in the AIRE gene: a missense variant c.977C>T (p.Pro326Leu) inherited from her mother and a 1.6 kb deletion spanning exons 2-4 with an untraceable origin due to the lack of paternal specimen, both classified as pathogenic according to ACMG guidelines.<h4>Conclusion</h4>We performed a systematic narrative review integrating 24 previously reported genetically confirmed Chinese APS-1 cases, forming a combined cohort of 25 cases for comprehensive analysis. This evidence concerns the gene AIRE and Autoimmune polyendocrinopathy type 1.