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Phagocytes Defects

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Primary Immunodeficiency Diseases

Abstract

There has been an outstanding progress in identification of phagocyte defects, especially neutropenia during last decade. Fifty years after the description by Kostmann, a gene mutation has been identified in patients with the syndrome bearing his name. Long-term follow-up of relatively large patient groups with known gene mutation(s) provided us more insight into the natural course of these diseases. The clinical identification and careful description of individual patients will continue to add to our better understanding of these disease processes. Defects of neutrophil function and/or differentiation, defects of motility, and defects of respiratory burst are the main sub-classification of phagocytes defects. Severe congenital neutropenia, cyclic neutropenia, glycogen storage disease type 1b, p14 deficiency, Barth syndrome, Cohen syndrome, and Clericuzio syndrome poikiloderma with neutropenia are primary immunodeficiency diseases (PIDs) with neutrophil function/differentiation defects, while leukocyte adhesion deficiency (LAD types I-III), Rac2 deficiency, β-actin deficiency, localized juvenile periodontitis, Papillon–Lefèvre syndrome, specific granule deficiency, and Shwachman–Diamond syndrome are classified in group of motility defects. Chronic granulomatous disease (CYBB, CYBA, NCF1, NCF2, NCF4) is the prototype of defects of respiratory burst.

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Authors and Affiliations

  1. Department of Pediatrics, Hospital St. Josef, Braunau, Austria

    Uwe Wintergerst MD

  2. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

    Uwe Wintergerst MD

  3. Pediatric Hematology, Immunology and Infectious Diseases, Emma Children’s Hospital Academic Medical Center and University of Amsterdam, Amsterdam, The Netherlands

    Taco W. Kuijpers MD, PhD

  4. Department of Blood Cell Research Sanquin Research and Landsteiner Laboratory, University of Amsterdam, Amsterdam, The Netherlands

    Taco W. Kuijpers MD, PhD

  5. Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA

    Sergio D. Rosenzweig MD, PhD

  6. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Steven M. Holland

  7. Primary Immunodeficiency Group, Institute of Cellular Medicine (ICM), Newcastle upon Tyne Hospitals NHS FT, Newcastle University, Newcastle upon Tyne, UK

    Mario Abinun MD

  8. Laboratory of Host Defenses, Genetic Immunotherapy Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Harry L. Malech MD

  9. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei MD, PhD

  10. Department of Immunology and Biology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei MD, PhD

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  1. Uwe Wintergerst MD
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  2. Taco W. Kuijpers MD, PhD
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  3. Sergio D. Rosenzweig MD, PhD
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  4. Steven M. Holland
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  5. Mario Abinun MD
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  6. Harry L. Malech MD
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  7. Nima Rezaei MD, PhD
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Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  2. Department of Immunology and Biology School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Asghar Aghamohammadi

  3. Division of Immunology, Boston Children's Hospital Harvard Medical School, Boston, Massachusetts, USA

    Luigi D. Notarangelo

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Wintergerst, U. et al. (2017). Phagocytes Defects. In: Rezaei, N., Aghamohammadi, A., Notarangelo, L. (eds) Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52909-6_4

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