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    Article

    Inborn errors of immunity: an expanding universe of disease and genetic architecture

    Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discus...

    Yemsratch T. Akalu, Dusan Bogunovic in Nature Reviews Genetics (2024)

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    Article

    Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

    The pathophysiology of adverse events following programmed cell death protein 1 (PD-1) blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We studied a patient with inherited ...

    Masato Ogishi, Rui Yang, Caner Aytekin, David Langlais, Mathieu Bourgey in Nature Medicine (2021)

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    Article

    A natural killer–dendritic cell axis defines checkpoint therapy–responsive tumor microenvironments

    Intratumoral stimulatory dendritic cells (SDCs) play an important role in stimulating cytotoxic T cells and driving immune responses against cancer. Understanding the mechanisms that regulate their abundance i...

    Kevin C. Barry, Joy Hsu, Miranda L. Broz, Francisco J. Cueto in Nature Medicine (2018)

  4. Article

    Open Access

    ISG15: leading a double life as a secreted molecule

    ISG15 is a well-known intracellular ubiquitin-like molecule involved in ISGylation. However, a recent study has revived the notion first put forward two decades ago that ISG15 is also a secreted molecule. Huma...

    Dusan Bogunovic, Stéphanie Boisson-Dupuis in Experimental & Molecular Medicine (2013)

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    Article

    Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

    The linear ubiquitination complex (LUBAC) is poorly understood in humans. Casanova and colleagues identify natural mutations in a component of human LUBAC and use this to dissect its function in vivo and in vitro

    Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani in Nature Immunology (2012)

  6. Article

    Open Access

    Clinical relevance of Neutral Endopeptidase (NEP/CD10) in melanoma

    Overexpression of Neutral Endopeptidase (NEP) has been reported in metastatic carcinomas, implicating NEP in tumor progression and suggesting a role for NEP inhibitors in its treatment. We investigated the rol...

    Elsa F Velazquez, Molly Yancovitz, Anna Pavlick in Journal of Translational Medicine (2007)