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Genetics of Cellular Immunodeficiencies

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Cellular Primary Immunodeficiencies

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

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Abstract

Primary immunodeficiencies (PIDs) constitute a rapidly expanding field. As of 2019 there are 430 distinct human inborn errors of immunity listed in the current IUIS classification (International Union of Immunological Societies) (Tangye et al., J Clin Immunol 40:24–64, 2020).

Within the last 20 years, hundreds of genetic defects underlying PID have been identified. Historically, these were classified into humoral immunodeficiencies, on the one hand, and cellular immunodeficiencies, on the other hand. However, as our understanding has been evolving, these categories have become increasingly complex: genetic defects, for example, can affect multiple cell populations simultaneously, may affect communication between different cell types, may constitute failure of the bone marrow or other compartments to support and regulate certain cell populations, or may be associated with syndromic features. Within this chapter, we aim to provide an overview over the basic concepts of genetics as well as genetics of cellular immunodeficiencies.

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Authors and Affiliations

  1. Department of Rheumatology and Clinical Immunology, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

    Natalie Frede

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  1. Natalie Frede
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Correspondence to Natalie Frede .

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Editors and Affiliations

  1. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

    Mario Milco D'Elios

  2. Department of Life Sciences, University of Siena, Siena, Italy

    Cosima Tatiana Baldari

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

    Francesco Annunziato

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Frede, N. (2021). Genetics of Cellular Immunodeficiencies. 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_2

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  • DOI: https://doi.org/10.1007/978-3-030-70107-9_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-70106-2

  • Online ISBN: 978-3-030-70107-9

  • eBook Packages: MedicineMedicine (R0)

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