The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity

    November 2010 in “ Journal of Allergy and Clinical Immunology ”
    Amit Nahum, Harjit Dadi, Andrea Bates, Chaim M. Roifman
    TLDR The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
    The study identified that the L412F variant of the Toll-like receptor 3 (TLR3) gene was present in 14 out of 21 patients (66%) with chronic mucocutaneous candidiasis (CMCC). This genetic variant was linked to increased susceptibility to severe viral infections, particularly cytomegalovirus (CMV), and autoimmune disorders. The L412F mutation impaired TLR3 function, resulting in reduced activation of NF-κB and decreased secretion of IFN-γ, both essential for effective immune responses. The allele frequency of L412F was significantly higher in these patients compared to control populations, indicating a genetic predisposition to these clinical conditions.
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