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.

Cantarini, L., Lucherini, O.M., Frediani, B., Brizi, M.g., Bartolomei, B., Cimaz, R., et al. (2011). Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY, 24(4), 827-836.

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

CANTARINI, LUCA;LUCHERINI, ORSO MARIA;FREDIANI, BRUNO;GALEAZZI, MAURO;
2011-01-01

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.
2011
Cantarini, L., Lucherini, O.M., Frediani, B., Brizi, M.g., Bartolomei, B., Cimaz, R., et al. (2011). Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY, 24(4), 827-836.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/20869
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