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Congenital Defects of Phagocytes

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Cellular Primary Immunodeficiencies

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

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Abstract

Phagocytes form the first line of defense against invading pathogens and play a key role in wound healing following tissue injury. A broad range of monogenic defects affecting phagocyte numbers and/or function have been described. A common hallmark of all congenital defects of phagocytes is an increased susceptibility to severe bacterial and fungal infections. Typical sites of infection are the skin, the oral mucosa and gingiva, lymph nodes, the lungs, and other internal organs. Furthermore, many congenital phagocyte disorders are associated with an increased risk of inflammatory manifestations and/or hematological malignancies. In the 1950s, survival of the first described disorders was dramatically poor with most patients dying from infectious complications in the first years of life. However, in the past decades, advances in diagnosis and treatment strategies have significantly improved patient outcome. In addition, the increased understanding of the molecular disease mechanisms has paved the way for gene therapy as a promising new treatment option. This chapter outlines the current knowledge on congenital defects of phagocytes, categorized according to their major underlying defect.

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Authors and Affiliations

  1. Centre for Primary Immunodeficiency Ghent, Department of Pediatrics, Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium

    Delfien J. Bogaert

  2. Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University and Ghent University Hospital, Ghent, Belgium

    Delfien J. Bogaert & Filomeen Haerynck

  3. Centre for Primary Immunodeficiency Ghent, Department of Pediatrics, Division of Pediatric Pulmonology, Infectiology and Immunology, Ghent University Hospital, Ghent, Belgium

    Filomeen Haerynck

Authors
  1. Delfien J. Bogaert
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  2. Filomeen Haerynck
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Correspondence to Filomeen Haerynck .

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  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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Bogaert, D.J., Haerynck, F. (2021). Congenital Defects of Phagocytes. 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_7

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