Abstract
Autoinflammatory diseases (AIDs) are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticarial syndrome (FCAS), Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3). However, a new class of autoinflammatory disease resembling FCAS or MWS has been described in patients with NLRP12 mutations. Here, we report a 6-year-old boy diagnosed with AID who developed an unexpected C3 glomerulopathy during attacks and carried a novel variation in NLRP12. Following treatment with IL (interleukin) 1 targeting agents, all symptoms and inflammation resolved. This is the first case in the literature affected by both autoinflammatory disease and C3 glomerulopathy.
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All authors made substantial contributions to conception and design of the paper as well as participated in drafting the article. All authors gave the final approval of the version to be submitted and any revised version. Study concept and design: ÖB and USB, NU. Analysis and interpretation of data: ÖB, FA, ETT, and SK. Drafting of the manuscript. ÖB, FA, ETT, and SK. Critical revision of the manuscript for important intellectual content: USB and ÖB. Study supervision: NÇ, USB, and NU.
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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Informed consent was obtained from the patient described in the case report. Parents of our patient have also agreed on publishing the pictures included in this manuscript.
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Başaran, Ö., Uncu, N., Çakar, N. et al. C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review. Rheumatol Int 38, 1571–1576 (2018). https://doi.org/10.1007/s00296-018-4092-3
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DOI: https://doi.org/10.1007/s00296-018-4092-3