• N Wu, D Wu, M Zhao, J Miao, W Yu, Y Wang, and M Shen.
• From the, Department of Rheumatology and Clinical Immunology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
• J. Intern. Med. 2021 Oct 1; 290 (4): 878-885.

BackgroundNucleotide-binding oligomerization domain-like receptor family, pyrin domain containing 3 (NLRP3)-associated autoinflammatory disease (NLRP3-AID) is a rare, heterogeneous disease entity associated with mutations in NLRP3. Biologic therapy for NLRP3-AID yields diverse results.ObjectivesWe aimed to evaluate the clinical features and outcomes of Chinese adult patients with NLRP3-AID who were treated with tumour necrosis factor (TNF)-α inhibitors.MethodsFive patients with NLRP3-AID were diagnosed and treated with TNF-α inhibitors at Peking Union Medical College Hospital between 2017 and 2020 and were followed up for 6 to 12 months. All patients were systematically studied for treatment outcomes, including clinical manifestations and inflammatory markers.ResultsAll five adult NLRP3-AID patients were Chinese Han, and four patients were males. The mean age at disease onset was 4.2 ± 4.1 years, and the mean time of diagnosis delay was 19.8 ± 6 years. All patients received TNF-α inhibitors with or without methotrexate/prednisone. During follow-up, all patients achieved remarkable clinical remission of skin lesions and polyarthritis and showed improvements in acute-phase reactants, inflammatory cytokines, patient visual analogue scale, physician global assessment and 36-item Short Form (SF-36).ConclusionsEarly diagnosis and effective therapy for NLRP3-AID are essential for avoiding irreversible organ damage. TNF-α inhibitors might serve as a therapeutic alternative for patients with NLRP3-AID who have unsatisfactory responses or no access to interleukin-1 inhibitors.© 2021 The Association for the Publication of the Journal of Internal Medicine.

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