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Human disease mutations highlight the inhibitory function of TIM-3

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A new study identifies loss-of-function mutations in HAVCR2, which encodes TIM-3, in patients with a rare cutaneous T cell lymphoma associated with aberrant immunological activation. These mutations lead to loss of the TIM-3 immunological checkpoint, thus promoting inflammation and malignancy.

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Fig. 1: TIM-3 deficiency leads to uncontrolled immunological activation resulting in T cell malignancy and autoinflammation.

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Authors and Affiliations

  1. Ann Romney Center for Neurologic Diseases and Evergrande Center for Immunologic Diseases, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA

    Karen O. Dixon, Madhumita Das & Vijay K. Kuchroo

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  1. Karen O. Dixon
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  2. Madhumita Das
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  3. Vijay K. Kuchroo
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Correspondence to Vijay K. Kuchroo.

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Competing interests

V.K.K. has patents dealing with intellectual property that have been licensed to Novartis Pharmaceuticals by the Brigham and Women’s Hospital.

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Dixon, K.O., Das, M. & Kuchroo, V.K. Human disease mutations highlight the inhibitory function of TIM-3. Nat Genet 50, 1640–1641 (2018). https://doi.org/10.1038/s41588-018-0289-3

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