Vasculitis & polymyalgia rheumatica
Genetic testing of Behçet’s disease using next-generation sequencing to identify monogenic mimics and HLA-B*51
Authors' conclusion
We describe a novel genetic workflow for BD, which can efficiently detect known and potentially novel monogenic forms of BD, whilst additionally providing HLA-typing.
Study context
- Population
- Patients with clinically suspected Behçet's disease (BD), four BD specialist care centres in the UKmedian age 15 (4–52)
- Participants
- 31 patients
- Outcome
- Identification of rare monogenic BD-like diseases and contribution of HLA haplotype
Methodological detailsmulticentre, whole-exome sequencing, whole-exome sequencing (WES); analysis by virtual gene panel, Exomiser with Human Phenotype Ontology (HPO), ExomeDepth for copy number variants, and HLA-typing with OptiType
- Multicentre
- Whole-exome sequencing
- WES; analysis by virtual gene panel, Exomiser with HPO, ExomeDepth for copy number variants, and HLA-typing with OptiType
Performance
As reported in the abstract
Monogenic disease mimicking BD
- Monogenic disease mimicking BD
- 9/31 (29%)
- Haploinsufficiency of A20 (novel TNFAIP3 variants)
- 5
- ISG15 deficiency (novel nonsense variant ISG15: p.Q16X and 1p36.33 microdeletion)
- 1
- Common variable immune deficiency (TNFRSF13B: p.A181E)
- 1
- TNF receptor-associated periodic syndrome (TNFRSF1A: p.R92Q)
- 2
Further findings
HLA-B*51 positive among remaining 22 patients
- HLA-B*51 positive
- 8 (36%)
Original publication
Genetic testing of Behçet’s disease using next-generation sequencing to identify monogenic mimics and HLA-B*51. Rheumatology (Oxford). Published 25 November 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →