Behcet's disease risk-variant HLA-B51/ERAP1-Hap10 alters human CD8 T cell immunity.

ABSTRACT:

Objectives

The endoplasmic reticulum aminopeptidase (ERAP1) haplotype Hap10 encodes for a variant allotype of the endoplasmic reticulum (ER)-resident peptide-trimming aminopeptidase ERAP1 with low enzymatic activity. This haplotype recessively confers the highest risk for Behçet's diseases (BD) currently known, but only in carriers of HLA-B*51, the classical risk factor for the disease. The mechanistic implications and biological consequences of this epistatic relationship are unknown. Here, we aimed to determine its biological relevance and functional impact.

Methods

We genotyped and immune phenotyped a cohort of 26 untreated Turkish BD subjects and 22 healthy donors, generated CRISPR-Cas9 ERAP1 KOs from HLA-B*51 ⁺ LCL, analysed

SUBMITTER: Cavers A 

PROVIDER: S-EPMC9585993 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature