A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants.

ABSTRACT:

Background

Porokeratosis (PK) is considered a skin-specific autoinflammatory keratinization disease. Intriguingly, four causative genes of PK are in turn arranged in mevalonate pathway, with MVD variants being the commonest followed by MVK variants in a cohort of Chinese patients. Evidence indicates that mevalonate metabolites induce trained immunity in human monocytes and regulate T cells at multiple levels. Of note, γδT cells are dually regulated by intracellular and extracellular mevalonate metabolism.

Aims

To identify the possible differences in T-cell between MVK or MVD variants from PK patients.

Materials & methods

Targeted exome sequencing and exonic CNV screening were performed in 26 patients with PK. Sanger sequencing was used to v

SUBMITTER: Tao L 

PROVIDER: S-EPMC9060116 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature