C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review

• Published in: Rheumatology international 2018-08, Vol.38 (8), p.1571-1576
• Main Authors: Başaran, Özge, Uncu, Nermin, Çakar, Nilgün, Turanlı, Eda Tahir, Kiremitci, Saba, Aydın, Fatma, Bayrakcı, Umut Selda
• Format: Article
• Language: English
• Subjects: Adenosine Deaminase; CARD Signaling Adaptor Proteins; Cases with a Message; Child; Cryopyrin-Associated Periodic Syndromes - genetics; Exons; Germany; Guanylate Cyclase; Hereditary Autoinflammatory Diseases - drug therapy; Hereditary Autoinflammatory Diseases - genetics; Humans; Intercellular Signaling Peptides and Proteins; Interleukin-1 - therapeutic use; Intracellular Signaling Peptides and Proteins; Male; Medicine; Medicine & Public Health; Membrane Proteins; Mutation; NLR Family, Pyrin Domain-Containing 3 Protein; Nucleoside Transport Proteins; Pyrin; Rheumatology; Treatment Outcome
• ISSN: 0172-8172; 1437-160X
• DOI: 10.1007/s00296-018-4092-3

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.