A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

Rheumatol Int. 2008 Feb;28(4):379-83. doi: 10.1007/s00296-007-0432-4. Epub 2007 Aug 8.

Authors

Zubeyde Gunduz¹, Ismail Dursun, Juan I Aróstegui, Jordi Yagüe, Ruhan Dusunsel, Hakan M Poyrazoglu, Metin Kaya Gurgoze, Ali Yikilmaz

Affiliation

¹ Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Talas, Kayseri, Turkey.

PMID: 17684747
DOI: 10.1007/s00296-007-0432-4

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Anti-Inflammatory Agents, Non-Steroidal / therapeutic use
Autoimmune Diseases / drug therapy
Autoimmune Diseases / genetics*
Autoimmune Diseases / pathology
Carrier Proteins / genetics*
Chronic Disease
Etanercept
Exons
Fatal Outcome
Genetic Predisposition to Disease
Humans
Immunoglobulin G / therapeutic use
Infant, Newborn
Infant, Newborn, Diseases / drug therapy
Infant, Newborn, Diseases / genetics*
Infant, Newborn, Diseases / pathology
Inflammation / drug therapy
Inflammation / genetics*
Inflammation / pathology
Magnetic Resonance Imaging
Male
Mutation, Missense*
NLR Family, Pyrin Domain-Containing 3 Protein
Phenotype
Receptors, Tumor Necrosis Factor / therapeutic use
Risk Factors
Syndrome
Treatment Outcome
Turkey

Substances

Anti-Inflammatory Agents, Non-Steroidal
Carrier Proteins
Immunoglobulin G
NLR Family, Pyrin Domain-Containing 3 Protein
NLRP3 protein, human
Receptors, Tumor Necrosis Factor
Etanercept