Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee
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引用次数: 3
Abstract
Background: NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). Case Presentation. We report a 1-year-old boy who had recurrent urticarial rash since birth and joint pain and swelling. He had a missense mutation c.G1060 T (p.A354S) in exon 5 of the NLRP3 gene which was detected by whole exome sequencing.
Conclusion: A novel variant was found in the NLRP3 gene which has not been reported by now.
期刊介绍：
Case Reports in Immunology is a peer-reviewed, Open Access journal that publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.
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