A rare case of an NLRP12-associated autoinflammatory disease

Eur J Med Genet. 2021 Apr;64(4):104168. doi: 10.1016/j.ejmg.2021.104168. Epub 2021 Mar 3.


Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory diseases. Here we report a very rare case of NLRP12-associated autoinflammatory disease patient who initially presented with polyarthritis and was diagnosed as FMF. Later, the genetic analysis excluded many autoinflammatory conditions including FMF and revealed a c.1206C>G; p.(Phe402Leu) variant in the NLRP12 gene. Awareness of rare autoinflammatory conditions is important to have the best approach to the patients presenting with common symptoms of autoinflammatory diseases.

Keywords: Autoinflammatory diseases; Familial mediterranean fever; NLRP12; Polyarthritis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arthritis / diagnosis
  • Arthritis / genetics*
  • Autoimmune Diseases / diagnosis
  • Autoimmune Diseases / genetics*
  • Diagnosis, Differential
  • Familial Mediterranean Fever / diagnosis
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation, Missense


  • Intracellular Signaling Peptides and Proteins
  • NLRP12 protein, human