Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature

Pediatr Rheumatol Online J. 2023 Feb 10;21(1):15. doi: 10.1186/s12969-023-00795-x.

Abstract

Background: Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited or de novo gain-of-function mutations in the NOD-like receptor 3 (NLRP3) gene. At present, there is no report about the variation of R262W in China.

Case presentation: We reported a 3-year-old Chinese boy who had recurrent fever without obvious inducement, bilateral conjunctival congestion, and urticarial-like rash. Laboratory examination showed elevation in leukocyte count, neutrophil count, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) and serum amyloid protein (SAA) levels. Whole exome sequencing identified a missense variation c.784-786delinsTGG (p.R262W) in the coding region of the NLRP3 gene.

Conclusion: A classical variant of the NLRP3 gene in a patient with MWS was first reported in China.

Keywords: Cryopyrin-associated periodic syndrome (CAPS); Muckle-Wells syndrome (MWS); NLRP3 gene; Variation.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Child, Preschool
  • Cryopyrin-Associated Periodic Syndromes* / diagnosis
  • Cryopyrin-Associated Periodic Syndromes* / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein / genetics
  • NLR Proteins / genetics
  • Rare Diseases

Substances

  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLR Proteins
  • NLRP3 protein, human