A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.
Gunduz
Zubeyde
Z
Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Talas, Kayseri, Turkey.
Dursun
Ismail
I
Aróstegui
Juan I
JI
Yagüe
Jordi
J
Dusunsel
Ruhan
R
Poyrazoglu
Hakan M
HM
Gurgoze
Metin Kaya
MK
Yikilmaz
Ali
A
D000293:Adolescent; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001327:Autoimmune Diseases / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D002908:Chronic Disease; D000068800:Etanercept; D005091:Exons; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D007249:Inflammation / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010641:Phenotype; D018124:Receptors, Tumor Necrosis Factor / Q000627:therapeutic use; D012307:Risk Factors; D013577:Syndrome; D016896:Treatment Outcome; D014421:Turkey
D000894:Anti-Inflammatory Agents, Non-Steroidal; D002352:Carrier Proteins; D007074:Immunoglobulin G; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D018124:Receptors, Tumor Necrosis Factor; D000068800:Etanercept