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Primary Immunodeficiency Disorders: Diagnosis and Management

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Nonmalignant Hematology

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Abstract

Genetically inherited inborn errors of immunity result in impaired immune function and leave affected individuals exposed to increased risks of infection, inflammation, lymphoid malignancy and autoimmunity. Over 200 primary immunodeficiencies are now described, affecting innate and adaptive immunity. Most are inherited in an autosomal recessive fashion, although some have X-linked recessive inheritance. More recently, autosomal dominant diseases have been described, as well as diseases caused by genetic mutations leading to gain-of-function rather than hypomorphic or null mutations. For many diseases, allogeneic haematopoietic cell transplantation (allo-HCT) is curative.

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Authors and Affiliations

  1. Allergy & Clinical Immunology Unit, 2nd Department of Pediatrics, University of Athens, P&A Kyriakou Children’s Hospital, Athens, Greece

    Paraskevi Maggina

  2. Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK

    Andrew R. Gennery

  3. Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Childrens’ Hospital, Newcastle upon Tyne, UK

    Andrew R. Gennery

  4. Clinical Resource Building, Great North Children’s Hospital, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK

    Andrew R. Gennery

Authors
  1. Paraskevi Maggina
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  2. Andrew R. Gennery
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Corresponding author

Correspondence to Andrew R. Gennery .

Editor information

Editors and Affiliations

  1. Cancer Treatment Centers of America, Department of Hematology and Bone Marrow Transplantion, Zion, Illinois, USA

    Syed A. Abutalib

  2. Dana-Farber Cancer Institute, Brigham and Women's Hospital, Boston, Massachusetts, USA

    Jean M. Connors

  3. Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA

    Margaret V. Ragni

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© 2016 Springer International Publishing Switzerland

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Maggina, P., Gennery, A.R. (2016). Primary Immunodeficiency Disorders: Diagnosis and Management. In: Abutalib, S., Connors, J., Ragni, M. (eds) Nonmalignant Hematology. Springer, Cham. https://doi.org/10.1007/978-3-319-30352-9_49

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  • DOI: https://doi.org/10.1007/978-3-319-30352-9_49

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-30350-5

  • Online ISBN: 978-3-319-30352-9

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