Severe Combined Immunodeficiencies

Anna Villa, Despina Moshous, Jean Pierre de Villartay, Luigi D. Notarangelo, Fabio Candotti

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Severe combined immune deficiencies (SCIDs) represent a heterogeneous group of inherited disorders characterized by severe impairment of T and/or B cell development. The clinical presentation can be relatively uniform, including life-threatening infections and failure to thrive, and is associated in many cases with a broad spectrum of clinical manifestations, including inflammation, autoimmunity, and lymphoproliferative diseases. Because of the severity of the clinical manifestations, SCID is a pediatric emergency which, if not recognized early, can be fatal. Genetic studies and recent advances in genome sequencing have greatly unraveled the molecular basis of SCID and in parallel have highlighted the role played by various genes in the differentiation of T and B cells. Furthermore, compelling evidence has demonstrated the complex molecular heterogeneity underlying similar immunophenotypes, and in other cases has shown that defects in the same molecule might result in different clinical manifestations. Overall, these findings highlight the relevance of genetic studies and suggest the use of molecular and immunological studies as a comprehensive approach to rapid diagnosis of immunodeficiency.In this chapter are described the clinical and immunological phenotypes and recent insights into the pathophysiology of clinical manifestations of immune dysregulation associated with immunodeficiency.

Original languageEnglish
Title of host publicationStiehm's Immune Deficiencies
PublisherElsevier Inc.
Pages87-141
Number of pages55
ISBN (Print)9780124058606, 9780124055469
DOIs
Publication statusPublished - Aug 12 2014

Keywords

  • Adenosine deaminase
  • Autoantibodies
  • Autoimmune regulator element (AIRE)
  • Autoimmunity
  • Autoreactive T cells
  • B cell differentiation
  • B cell receptor
  • Bone marrow transplantation
  • Central tolerance
  • DNA repair
  • Gene therapy
  • Immune dysregulation
  • Newborn screening
  • NK cells
  • Non-homologous end joining
  • Peripheral tolerance
  • Recombination activating gene (RAG)
  • Regulatory T cells
  • Severe combined immunodeficiency
  • T cell differentiation
  • T cell receptor
  • T cell receptor excision circle
  • Thymus
  • V(D)J recombination process

ASJC Scopus subject areas

  • Medicine(all)
  • Immunology and Microbiology(all)

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