Rheumatology International

, Volume 38, Issue 8, pp 1571–1576 | Cite as

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

  • Özge BaşaranEmail author
  • Nermin Uncu
  • Nilgün Çakar
  • Eda Tahir Turanlı
  • Saba Kiremitci
  • Fatma Aydın
  • Umut Selda Bayrakcı
Cases with a Message


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.


Autoinflammatory disease C3 glomerulopathy NLRP12 Pediatric 


Author contributions

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.


No funding received for this research.

Compliance with ethical standards

Ethical approval

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.

Informed consent

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.

Conflict of interest

Authors declare that there is no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Pediatric Rheumatology, Ankara Child Health and Disease Hematology Oncology Training and Research HospitalUniversity of Health SciencesAnkaraTurkey
  2. 2.Department of Pediatric RheumatologyAnkara University School of MedicineAnkaraTurkey
  3. 3.Division of Molecular Biology and Genetics, Faculty of Science and Literatureİstanbul Technical UniversityIstanbulTurkey
  4. 4.Department of PathologyAnkara University School of MedicineAnkaraTurkey
  5. 5.Department of Pediatric NephrologyYıldırım Beyazıt UniversityAnkaraTurkey

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