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

   
@article{FOMM32257,
	author = {Yi-Lin Yao and Xue-Min Shen and Lin-Jun Shi and Chen-Xi Li and Lan Wu},
	title = {Chronic mucocutaneous candidiasis with STAT1 gain-of-function variant: a case report and review of the literature},
	journal = {Frontiers of Oral and Maxillofacial Medicine},
	volume = {1},
	number = {0},
	year = {2019},
	keywords = {},
	abstract = {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.},
	issn = {2664-777X},	url = {https://fomm.amegroups.org/article/view/32257}
}