Abstract
Immunodeficiency Mucosal-associated invariant T (MAIT) cells represent ∼5% of circulating human T cells, reside in high frequency in mucosal tissues, and provide enhanced immunity against bacterial and viral infections. Howson et al. set out to determine the genetic basis of immunodeficiency in a patient with persistent tattoo-associated human papilloma virus–positive warts. The gene MR1 encodes a major histocompatibility complex–like molecule that presents bacteria-derived riboflavin metabolites to MAIT cells. Whole-exome sequencing led the researchers to identify a rare point mutation in both copies of the MR1 gene. By solving the structure of the mutant MR1 protein, they demonstrated that the mutation disrupted the ligand-binding domain of MR1. Consistent with this finding, the patient lacked circulating MAIT cells. Sci. Immunol. 5 , eabc9492 (2020).
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