Tofacitinib shows promise in TNFi-resistant Blau syndrome

Treatment with tofacitinib demonstrates effectiveness in patients with Blau syndrome (BS) who are resistant to tumor necrosis factor inhibitors (TNFi) or corticosteroids, reports a recent study.

“Specifically, the signal transducer and activator of transcription 3 (STAT3) rs2293152 GG polymorphism was associated with improved response to treatment, suggesting a genotype-influenced therapeutic efficacy,” the investigators said.

This 5-year multicentre, retrospective, observational study, conducted across seven centres, examined the genetic profiles and the clinical manifestations of the cohort. Therapeutic responses were assessed via genetic analysis, including whole-exome sequencing and nucleotide-binding oligomerization domain 2 (NOD2) and STAT3 rs2293152 phenotypic comparisons.

Arthritis was present in all patients, with two being oligoarticular and 22 polyarticular. The affected joints included the wrists, ankles, knees, and proximal interphalangeal joints.

In radiographic analysis, symmetrical nonerosive arthropathy was found in 92.3 percent of patients. Moreover, two-thirds of the cohort showed previously unrecognized dysplastic bone changes. Ocular involvement was found in all patients.

No association was observed between different NOD2 sequences and therapy response, whereas patients with the STAT3 rs2293152 GG polymorphism exhibited favourable responses to treatment, regardless of whether JAK1/3i or TNFi were used.

“TOF could be an effective therapeutic option for patients with BS who demonstrate resistance to TNFi or corticosteroids,” the investigators said.