Immunodeficiency Syndromes

Julie V. Schaffer*, Amy S. Paller

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Title of host publicationHarper's Textbook of Pediatric Dermatology
Subtitle of host publicationThird Edition
PublisherWiley-Blackwell
Pages1-34
Number of pages34
Volume2
ISBN (Print)9781405176958
DOIs
StatePublished - May 24 2011

Keywords

  • Ataxia telangiectasia
  • Chronic granulomatous disease
  • Chronic mucocutaneous candidiasis
  • Chédiak-higashi syndrome
  • Complement
  • Hyperimmunoglobulin M syndromes
  • Hyperimmunoglobulin e syndrome
  • Hypogammaglobulinaemia
  • Immunodeficiency
  • Immunoglobulin
  • Leucocyte adhesion deficiency
  • Severe combined immunodeficiency

ASJC Scopus subject areas

  • Medicine(all)

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