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    Chapter

    A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV

    Human chitinolytic enzyme named “chitotriosidase” takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasm...

    Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren… in JIMD Reports, Volume 17 (2014)

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    Article

    Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

    Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin, an inflammasome protein. Heterozygous carri...

    Yong Hwan Park, Elaine F. Remmers, Wonyong Lee, Amanda K. Ombrello… in Nature Immunology (2020)