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Diseases of Immune Dysregulation

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Cellular Primary Immunodeficiencies

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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Abstract

Inborn errors of immune regulation are a heterogeneous group of genetic disorders with variable clinical manifestations, including lymphoproliferation, autoimmunity, and increased susceptibility to infections. They are caused by defects in genes involved in controlling when and how the immune system must turn on, which and how much cytokines release, which antigens should be eliminated and which neglected, and why and when the immune response has to turn off. A defective regulation of one or more of these mechanisms leads to the recognition of self-antigen or to an excessive response to foreign antigens, and finally to and/or hyperinflammation that damage cells and organs. The treatment of these disorders is often challenging, as it often requires immunosuppression in the presence of increased risk of infections.

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  1. Clinic of Immunology and Rheumatology, MHH Hannover, Hannover, Germany

    Michele Proietti

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    Mario Milco D'Elios

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    Cosima Tatiana Baldari

  3. Department of Experimental and Clinical Medicine, University of Florence, Firenze, Florence, Italy

    Francesco Annunziato

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Proietti, M. (2021). Diseases of Immune Dysregulation. In: D'Elios, M.M., Baldari, C.T., Annunziato, F. (eds) Cellular Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-70107-9_9

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