Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.
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.
L
L
Cantarini
O M
OM
Lucherini
B
B
Frediani
M G
MG
Brizi
B
B
Bartolomei
R
R
Cimaz
M
M
Galeazzi
D
D
Rigante
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D018836:Inflammation Mediators / Q000378:metabolism; D007375:Interleukin-1 / Q000037:antagonists & inhibitors / Q000378:metabolism; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein
D000893:Anti-Inflammatory Agents; D002352:Carrier Proteins; D018836:Inflammation Mediators; D007375:Interleukin-1; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human