Chronic mucocutaneous candidiasis with STAT1 gain-of-function variant: a case report and review of the literature

Yi-Lin Yao, Xue-Min Shen, Lin-Jun Shi, Chen-Xi Li, Lan Wu


Chronic mucocutaneous candidiasis (CMC) is a rare clinically heterogeneous disease characterized by susceptibility to chronic or recurrent superficial Candida infection of the skin, nails and mucous membranes. We report a 14-year-old boy presented with recurrent oral Candida infection and oral ulcers complicated by recurrent keratitis, which were first noted shortly after birth. Whole-exome sequencing (WES) revealed a c.821G>A (p.R274Q) heterozygous mutation in the STAT1 gene. Further analysis by Sanger sequencing of STAT1 in his parents demonstrated that this variation was a spontaneous mutation. Dentists should consider primary immune deficiencies when patient presented with persistent, recurrent unresponsive candidiasis.