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Enhanced interleukin-1β and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome

✍ Scribed by Riny Janssen; Els Verhard; Arjan Lankester; Rebecca ten Cate; Jaap T. van Dissel

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
71 KB
Volume
50
Category
Article
ISSN
0004-3591

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✦ Synopsis

Abstract

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‐1β (IL‐1β) and IL‐18 release upon stimulation of blood cells and show that this release is caspase 1 dependent.

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Somatic mosaicism of CIAS1 in a patient
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome
✍ Megumu Saito; Akihiro Fujisawa; Ryuta Nishikomori; Naotomo Kambe; Mami Nakata-Hi 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 430 KB 👁 2 views

## Abstract Chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is a severe inflammatory disease that was recently found to be associated with mutations in __CIAS1__. However, __CIAS1__ mutations have been detected in only half of CINCA syndrome patients, and it remains unc