期刊
INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY
卷 24, 期 4, 页码 827-836出版社
BIOLIFE SAS
DOI: 10.1177/039463201102400402
关键词
Cryopyrin-associated periodic syndromes; familial cold autoinflammatory syndrome; Muckle-Wells syndrome; chronic infantile neurological cutaneous articular syndrome; neonatal onset multisystem inflammatory disease
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.
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