Genetic testing of Behcet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.

ABSTRACT:

Objective

Several monogenic autoinflammatory disorders and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to develop a genetic analysis workflow to identify rare monogenic BD-like diseases and establish the contribution of HLA haplotype in a cohort of patients from the UK.

Methods

Patients with clinically suspected BD were recruited from four BD specialist care centres in the UK. All participants underwent whole exome sequencing (WES), and genetic analysis thereafter by 1. examining genes known to cause monogenic immunodeficiency, autoinflammation or vasculitis by virtual panel application; 2. scrutiny of variants prioritised by Exomiser using Human Phenotype Ontology (HPO); 3. identification of cop

SUBMITTER: Burleigh A 

PROVIDER: S-EPMC11636563 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature