[HTML][HTML] A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation
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 Sanger sequencing
identified a heterozygous missense mutation in NLRC4 (NM_001199138: c. 1970A> T). This …
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 Sanger sequencing
identified a heterozygous missense mutation in NLRC4 (NM_001199138: c. 1970A> T). This …
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