Tumor necrosis factor-alpha blockade ameliorates inflammatory response in two children with chronic infantile neurological,cutaneous and articular syndrome |
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| Authors: | Xiao-yan Luo An-wei Chen Jin-hua Cai Jin Fang Hua Wang |
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| Institution: | 1. Department of Dermatology, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), Children’s Hospital of Chongqing Medical University, Chongqing, China;2. Department of Dermatology, Children’s Hospital of Chongqing Medical University, Chongqing, China;3. Department of Radiology, Chongqing Key Laboratory of Pediatrics, Children’s Hospital of Chongqing Medical University, Chongqing, China;4. Department of Ophthalmology, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, China |
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| Abstract: | Chronic infantile neurological, cutaneous and articular (CINCA) syndrome is a rare autoinflammatory disease caused by monogenic defects in the NLRP3 gene. Pro-inflammatory cytokines such as interleukin (IL)-1β play a crucial role in the pathogenesis, and IL-1 receptor antagonists have been regarded as the mainstay therapy. Endogenous tumor necrosis factor (TNF)-α was found recently to be involved in the onset of the disease. Here, we report two Chinese children with CINCA syndrome who had elevated serum levels of TNF-α, with one carrying a novel mutation of c.1330T/G (p.444Phe/Val) in exon 3 of the NLRP3 gene. Anti-TNF-α (etanercept) therapy successfully alleviated both clinical symptoms and systemic inflammation after 6 months. These results suggest the complexity of the mechanisms of the disease and that TNF-α blockade will broaden the therapeutic approach for a subset of patients. |
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| Keywords: | chronic infantile neurological cutaneous and articular syndrome etanercept interleukin-1 NLRP3 tumor necrosis factor-α |
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