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

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dc.contributor.authorChai Teng Chear
dc.contributor.authorRevathy Nallusamy
dc.contributor.authorScott W. Canna
dc.contributor.authorKwai Cheng Chan
dc.contributor.authorMohd Farid Baharin
dc.contributor.authorMunirah Hishamshah
dc.contributor.authorHamidah Ghani
dc.contributor.authorAdiratna Mat Ripen
dc.contributor.authorSaharuddin Bin Mohamad
dc.date.accessioned2024-08-25T06:50:27Z
dc.date.available2024-08-25T06:50:27Z
dc.date.issued2020
dc.description.abstractAutoinflammatory 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 variant was predicted to be damaging in silico, was absent in public and local databases and occurred in a highly conserved residue in the leucine-rich repeat (LRR) domain. Cytokine analysis showed extremely high serum IL-18 and IL 18/CXCL9 ratio, consistent with other NLRC4-MAS patients. In summary, we identified the first patient with a novel de novo heterozygous NLRC4 gene mutation contributing to autoinflammatory disease in Malaysia. Our findings reinforce the likely pathogenicity of specific LRR domain mutations in NLRC4 and expand the clinical spectrum of NLRC4 mutations.
dc.identifier.doi10.1016/j.clim.2019.108328
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/31870725/
dc.identifier.urihttps://repository.nih.gov.my/handle/123456789/1010
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofClinical Immunology
dc.relation.issn1521-6616
dc.relation.journalClinical Immunology
dc.subjectAutoinflammatory disease
dc.subjectNLRC4
dc.subjectInflammasome
dc.subjectWhole exome sequencing
dc.titleA novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation
dc.typejournal-article
dspace.entity.typePublication
oaire.citation.volume211
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