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


Basaran O., Uncu N., ÇAKAR N., Tahir Turanlı E., KİREMİTCİ S., Aydin F., ...Daha Fazla

RHEUMATOLOGY INTERNATIONAL, cilt.38, ss.1571-1576, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 38 Konu: 8
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s00296-018-4092-3
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Sayfa Sayıları: ss.1571-1576

Özet

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.