A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation.
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DOI: 10.1016/j.clim.2019.108328
Abstract: 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… read more here.
Keywords: likely pathogenicity; lrr domain; novel novo; mutation ... See more keywords