NLRP3 (NM_001243133.2) sequence variants
(AII, AVP, FCU, MWS, FCAS, KEFH, CIAS1, FCAS1, NALP3, C1orf7, CLR1.1, DFNA34, PYPAF1, AGTAVPRL)

PubMed of the initial paper:

• Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
  Hoffman HM & al
• Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
  Feldmann J & al
• Alternative splicing regulates stochastic NLRP3 activity
  Hoss F & al

Review:

• The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
  Putnam CD & al

Other links:

• MAP VIEW
• ORPHANET: Orphan disease database
  • CINCA
  • FCAS
  • KEFH
  • MWS

• NOMID Alliance: Patient association in USA