AIRE and autoimmune polyendocrine syndrome type 1: In conclusion, we report a missense AIRE mutation (c.463G>A) in two patients of a consanguineous Chinese family with different phenotypes of APS-1, and for the first time confirmed its pathogenetic role in altering AIRE pre-mRNA splicing (intron 3 retention) by minigene splicing analysis and subsequent cDNA sequencing.