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Identification of a novel de novo NLRC4 mutation as causative factor for disease phenotype in a Malaysian patient suspected with Primary Immunodeficiency Diseases (PIDs) – Published in Clin. Immunol. 2020 Feb;211:108328. doi:10.1016/j.clim.2019.108328. [Download] |
| In this collaboration project with Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research (IMR), we identified a novel missense NLRC4 mutation in a Malay girl, who exhibited recurrent fever, skin erythema, and inflammatory arthritis. The gene mutation (c.1970A > T , p.Gln657Leu) identified by whole-exome sequencing (WES) and confirmed by Sanger sequencing. This mutation occurred in a highly conserved residue in the leucine-rich repeat (LRR) domain of NLRC4. Computational pathogenicity prediction revealed that the mutation was predicted to be deleterious. In addition, cytokine analysis showed elevated serum IL-18 and IL-18/CXCL9 ratio in the patient. In summary, we reported the first Malaysian patient with autoinflammatory disease attributed to a novel de novo NLRC4 mutation. These findings emphasize the likely pathogenicity of LRR domain mutations in NLRC4 and broaden the clinical spectrum of associated diseases. |
PM Dr Saharuddin Mohamad
Ketua ISB
Last Updated: 12/10/2021