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Article

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

Clinical immunology (Orlando, Fla.) - 1 Feb 2020

Chear Chai Teng, Nallusamy Revathy, Canna Scott W, Chan Kwai Cheng, Baharin Mohd Farid, Hishamshah Munirah, Ghani Hamidah, Ripen Adiratna Mat, Mohamad Saharuddin Bin

Abstract excerpt

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 with recurrent fever, skin erythema, and inflammatory arthritis. Whole exome sequencing and subsequent bidirectional...

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PMID: 31870725
DOI: 10.1016/j.clim.2019.108328

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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