CONCISE REPORT Autoinflammatory gene mutations in Behçet’s disease

Background: Behçet’s disease (BD) shares clinical features with well-recognised autoinflammatory disorders. In addition, muta-tions in genes for familial Mediterranean fever and tumour necrosis factor receptor-associated periodic syndrome have been reported to have increased in patients with BD. Patients and methods: DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syn-drome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syn-dromes (CAPS) and pyogenic sterile arthritis, pyoderma gang-renosum and acne (PAPA) syndrome, respectively. Over 90 % of known mutations were screened using restriction fragment length polymorphism analysis and/or sequencing. Results: Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD. Another was heterozygotic for the V377I genotype. The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms of CAPS. No mutations were identified in the control group. PSTPIP1 analysis revealed a new exon 10 insertion varian