A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome
- 27 August 2005
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Pediatrics
- Vol. 164 (12), 785-786
- https://doi.org/10.1007/s00431-005-1750-8
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
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- Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine‐rich repeat domain of CIAS1Arthritis & Rheumatism, 2004
- Infevers: An evolving mutation database for auto-inflammatory syndromesHuman Mutation, 2004
- Inflammatory CaspasesCell, 2004
- De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal‐onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin‐associated autoinflammatory diseasesArthritis & Rheumatism, 2002
- Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndromeNature Genetics, 2001