Trichophytic closure for cicatricial alopecia on the scalp

exact test). Sequence analysis revealed two previously described mutations c.1118G>C and c.820_821insG in CARD9 in two patients, respectively, resulting in the amino acid substitutions p.Arg373Pro and frame-shift mutation p.Asp274Glyfs. We identified one novel mutation in exon 2 of the CARD9 gene in one patient: heterozygous missense variant p.Glu9Lys (c.25G>A). The mutation p.Asp274Glyfs has been reported in patients with subcutaneous phaeohyphomycosis and led to lack of CARD9 protein expression. In a patient suffering from Candida dubliniensis meningoencephalitis, p.Arg373Pro in the CARD9 gene was found to result in the loss of protein expression. CARD9 deficiency has been reported to be responsible for various fungal infections; however, there seems to be no correlation between the type of mutation. Our findings linked, for the first time, CARD9 deficiencies with susceptibility to Sporothrix. The occurrence ratio of the detected mutations in patients with sporotrichosis is much higher than that of the normal population, and this result further demonstrates that the CARD9 gene plays an important role in fungal infectious diseases.

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