PMC8721043_01
Chronic oral candidiasis (left, photo taken in February 2018) associated with diffuse inflammatory papules and blepharitis along with cutaneous and ocular rosacea-like demodicosis (right, photo taken in June 2018).
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On clinical exam, marked oral candidiasis and diffuse inflammatory papules on the face associated with bilateral blepharitis were noted ( Figure 1 ).
Skin biopsy (hematoxylin and eosin staining, x10). A mixed inflammatory infiltrate (arrow), without granuloma, related to pilosebaceous units, containing Demodex (star).
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Appendix 2 ). Skin biopsy also revealed non-granulomatous peripilar inflammation with the presence of numerous Demodex within the follicles ( Figure 2 ). A diagnosis of florid rosacea-like demodicosis was therefore established.
U3C cells were transfected with a mock vector, a WT allele, or three mutant alleles of STAT1 (encoding T295K, R274Q, or Y701C STAT1). Luciferase activity under a GAS promoter was evaluated after 16 h of stimulation with 10 or 1,000 IU/ml of IFN-gamma or without stimulation.
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WT encoding STAT1 allele or even more when compared to the loss-of-function p.Y701C-encoding STAT1 mutant allele, comparable to the p.R274Q-encoding STAT1 mutant allele, previously shown to be GOF ( Figure 3 ). We did not assess pSTAT1 in the patient's cells.