Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Donato Rigante, Luca Cantarini, Om Lucherini, B Frediani, Mg Brizi, Beatrice Bartolomei, Rolando Cimaz, Mauro Galeazzi

Research output: Contribution to journalArticlepeer-review

54 Citations (Scopus)

Abstract

Cryopyrin-associated periodic syndromes are categorized as a spectrum of three autoinflammatory diseases, namely familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. All are caused by mutations in the NLRP3 gene coding for cryopyrin and result in active interleukin-1 release: their rarity and shared clinical indicators involving skin, joints, central nervous system and eyes often mean that correct diagnosis is delayed. Onset occurs early in childhood, and life-long therapy with interleukin-1 blocking agents usually leads to tangible clinical remission and inflammatory marker normalization in a large number of patients, justifying the need to facilitate early diagnosis and thus avoid irreversible negative consequences for tissues and organs.
Original languageEnglish
Pages (from-to)827-832
Number of pages6
JournalInternational Journal of Immunopathology and Pharmacology
Volume2011
Publication statusPublished - 2011

Keywords

  • Cryopyrin
  • criopirina

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