Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a severe inflammatory disease that recently was associated with mutations in CIAS1. It was hypothesized that these mutations may lead to enhanced inflammatory responses. Herein, we provide evidence that inflammation in the CINCA syndrome is characterized by enhanced interleukin-1beta (IL-1beta) and IL-18 release upon stimulation of blood cells and show that this release is caspase 1 dependent.
Leiden University Medical Center, Leiden, The Netherlands.
Riny
R
Janssen
Els
E
Verhard
Arjan
A
Lankester
Rebecca
R
Ten Cate
Jaap T
JT
van Dissel
D001773:Blood Cells / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics; D020170:Caspase 1 / Q000502:physiology; D002648:Child; D002908:Chronic Disease; D005260:Female; D006801:Humans; D007375:Interleukin-1 / Q000378:metabolism*; D020382:Interleukin-18 / Q000378:metabolism*; D007592:Joint Diseases / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D009422:Nervous System Diseases / Q000235:genetics / Q000503:physiopathology*; D012871:Skin Diseases / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome
D002352:Carrier Proteins; D007375:Interleukin-1; D020382:Interleukin-18; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D020170:Caspase 1