The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

På svenska

Author

  • LD Notarangelo
  • S Giliani
  • C Mazza
  • P Mella
  • G Savoldi
  • C Rodriguez-Perez
  • E Mazzolari
  • M Fiorini
  • M Duse
  • A Plebani
  • AG Ugazio
  • Mauno Vihinen
  • F Candotti
  • RF Schumacher
Show all

Summary, in English

Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma (c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK- SCID). While extensive molecular and biochemical analysis of these patients has been instrumental in understanding better the biological properties of the gamma (c) and JAK3 protein, an unexpected phenotypic heterogeneity of gamma (c) and JAK3 deficiency has emerged, indicating the need for appropriate and extensive investigations even in patients with atypical presentations. At the same time, characterization of the defects has been instrumental in the development of never therapeutic approaches, from in utero hematopoietic stem cell transplantation to gene therapy.

Publishing year

2000

Language

English

Pages

39-48

Publication/Series

Immunological Reviews

Volume

178

Document type

Journal article review

Publisher

Wiley-Blackwell

Topic

  • Immunology in the medical area

Status

Published

ISBN/ISSN/Other

  • ISSN: 1600-065X