Abstract
The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases. The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases.
Highlights
The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3
Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases
In the V198M cohort the mean age at disease onset was 5,85 ± 4,08 years
Summary
PReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants Introduction The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum.
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