177. Immunodeficiency Syndromes

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Julie V. Schaffer1 and
  2. Amy S. Paller2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch177

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

Schaffer, J. V. and Paller, A. S. (2011) Immunodeficiency Syndromes, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch177

Editor Information

  1. 3

    Trinity College, Dublin, Ireland

  2. 4

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 5

    University of Hamburg, Hamburg, Germany

  4. 6

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 7

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 8

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. 1

    Associate Professor of Dermatology and Pediatrics, Director of Pediatric Dermatology, Department of Dermatology, New York University School of Medicine, New York, NY, USA

  2. 2

    Walter J. Hamlin Professor and Chair of Dermatology and Professor of Pediatrics, Departments of Dermatology and of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • ataxia telangiectasia;
  • Chédiak–Higashi syndrome;
  • chronic granulomatous disease;
  • chronic mucocutaneous candidiasis;
  • complement;
  • hyperimmunoglobulin E syndrome;
  • immunodeficiency;
  • immunoglobulin;
  • hyperimmunoglobulin M syndromes;
  • hypogammaglobulinaemia;
  • leucocyte adhesion deficiency;
  • severe combined immunodeficiency

Summary

Primary immunodeficiency syndromes represent a heterogeneous group of disorders characterized by increased susceptibility to infection, often together with additional features such as autoimmunity, allergy and malignancy. The molecular bases have been defined for more than 130 monogenic primary immunodeficiency diseases, providing valuable insight into the function of the immune system. Immunodeficiency should be suspected when children have recurrent infections of increased duration and severity, with a poor response to treatment, or caused by unusual organisms. Immunodeficiency syndromes are often associated with prominent mucocutaneous abnormalities, which can facilitate early diagnosis. In addition to mucocutaneous infections (most often caused by Staphylococcus aureus, Candida spp. and human papilloma viruses), non-infectious mucocutaneous features that are shared by several immunodeficiency syndromes include granulomas, eczematous dermatitis, lupus erythematosus-like lesions, small-vessel vasculitis, and ulcers. Other skin findings in patients with recurrent infections may point to a specific underlying diagnosis.