Research
IL-1 inhibitors for patients with R92Q-associated autoinflammatory syndrome
An observational study of the efficacy the IL-1 inhibitors anakinra and canakinumab in patients affected by an autoinflammatory disease due to the presence of R92Q variant in the TNFRSF1A gene has been recently published by the AIDA Network on TAMD journal. This intriguing variant is associated to mild, incomplete or atypical phenotypes in TRAPS patients, but it is frequently detected also in patients affected by multifactorial inflammatory diseases and even in healthy people. In the AIDA cohort, we observed a favourable therapeutic response to the IL-1 inhibition, with up to 68% of patients showing a complete remission of clinical and laboratory signs of inflammation during a median follow-up of 17 months. This was particularly true when the mutation segregated in a family member and when a relapsing-remitting disease course or TRAPS typical skin rash were observed in the patient. Moreover, our data about the non-responder subgroup pave the way for further research on different molecular mechanisms underlying the autoinflammatory picture in these patients.
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