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Efficacy of canakinumab for mosaic tumor necrosis factor receptor associated periodic syndrome

Alexandre Terréa,1, Mathieu Vautierb,1, Jean-Emmanuel Kahnc,

Sophie Georgin-Laviallea,2,*, Guilaine Boursierd,2


Efficacy of canakinumab for mosaic tumor necrosis factor receptor associated periodic syndrome

Introduction:

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is one of the first monogenic autoinflammatory diseases to be described [1]. TRAPS is a dominant disease due to mutations in the TNFRSF1A gene and affects patients from all regions of the world [2].

The main clinical features are prolonged recurrent inflammatory flares associated with fever, abdominal pain, myalgia and oedema. Most patients have a germline mutation, but 4 patients with somatic (i.e.post-zygotic) mutations have been described [3–6]. Canakinumab, a monoclonal anti-interleukin-1 antibody, has been reported to be effective in preventing attacks and controlling inflammation in germinal TRAPS. Indeed, canakinumab is the only molecule that has shown efficacy in a randomized trial [7]. One case associated with somatic mutation reported efficacy of canakinumab for somatic TRAPS [4]. Here we report the efficacy of canakinumab for the treatment of 2 patients followed in the French referral center for adult auto-inflammatory disease (CEREMAIA).

Received 11 December 2023; Received in revised form 22 January 2024; Accepted 25 January 2024

0953-6205/© 2024 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

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