A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation

• Main Authors: Chear, Chai Teng, Nallusamy, Revathy, Canna, Scott W., Chan, Kwai Cheng, Baharin, Mohd Farid, Hishamshah, Munirah, Ghani, Hamidah, Ripen, Adiratna Mat, Bin Mohamad, Saharuddin
• Format: Article
• Published: Academic Press Inc Elsevier Science 2020
• Subjects: Q Science (General); QH301 Biology
• Online Access: http://eprints.um.edu.my/36911/

Autoinflammatory disorders are characterized by dysregulated innate immune response, resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function mutations in NLRC4 have been described to cause a range of autoinflammatory disorders. We report a twelve-year-old Malay girl wit...