Article thumbnail

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation

By S Borghini, S Tassi, S Chiesa, F Caroli, S Carta, R Caorsi, M Fiore, L Delfino, D Lasigliè, C Ferraris, E Traggiai, M Di Duca, G Santamaria, A D'Osualdo, M Tosca, A Martini, I Ceccherini, A Rubartelli and M Gattorno
Topics: Autoinflammatory Disease
Publisher: Wiley Subscription Services, Inc., A Wiley Company
OAI identifier:
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles


  1. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
  2. A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions.
  3. Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1 secretion. Proc Natl Acad SciUSA2010;107:9789–94.
  4. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function.
  5. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
  6. Dysregulation of innate immunity: hereditary periodic fever syndromes.
  7. forms an IL-1-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.
  8. (2003). Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes. Arthritis Rheum
  9. Immunological and inflammatory functions of the interleukin-1 family. Annu Rev Immunol 2009;27:519–50.
  10. (2003). Interleukin-1–receptor antagonist in the Muckle–Wells syndrome.
  11. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
  12. (2007). Monarch-1 suppresses non-canonical NF-B activation and p52-dependent chemokine expression in monocytes.
  13. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and MuckleWells syndrome.
  14. Mutations in NALP12 cause hereditary periodic fever syndromes.
  15. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1 inhibition.
  16. Pathogen-induced interleukin-1 processing and secretion is regulated by a biphasic redox response.
  17. (2008). Persistent efficacy of anakinra in patients with tumor necrosis factor receptor–associated periodic syndrome. Arthritis Rheum
  18. (2005). The CATERPILLER protein monarch-1 is an antagonist of Toll-like receptor-, tumor necrosis factor -, and Mycobacterium tuberculosis-induced pro-inflammatory signals.
  19. (2007). The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum
  20. (2008). The Nod-like receptor (NLR) family: a tale of similarities and differences. PLoS One
  21. (2008). the nucleotide-binding domain leucine-rich repeat containing gene family. Curr Opin Immunol
  22. (2008). The pattern of response to anti–interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis. Arthritis Rheum