Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of theCIAS1 gene and response to interleukin-1 receptor antagonist treatment
- 15 April 2006
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 140A (8) , 883-886
- https://doi.org/10.1002/ajmg.a.31148
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonistThe Lancet, 2004
- Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCUBlood, 2004
- Spectrum of clinical features in Muckle‐Wells syndrome and response to anakinraArthritis & Rheumatism, 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
- Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and ChondrocytesAmerican Journal of Human Genetics, 2002
- Possible new role for NF-κB in the resolution of inflammationNature Medicine, 2001
- Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndromeNature Genetics, 2001
- A Chronic, Infantile, Neurological, Cutaneous and Articular (CINCA) Syndrome. A Specific Entity Analysed in 30 PatientsScandinavian Journal of Rheumatology, 1987
- Neonatal Onset Multisystem Inflammatory DiseaseArthritis & Rheumatism, 1983
- Arthropathy with rash, chronic meningitis, eye lesions, and mental retardationThe Journal of Pediatrics, 1981