Springer Seminars in Immunopathology

, Volume 19, Issue 4, pp 401–415 | Cite as

Severe combined immune deficiencies due to defects of the common γ chain-JAK3 signaling pathway

  • Fabio Candotti
  • John J. O'Shea
  • Anna Villa


The recent elucidation of the molecular basis of TB+SCID has led to significant advances in both basic and clinical immunology. The demonstration of mutation of lye and JAK3 as the pathogenetic basis for X-linked and autosomal-recessive TB+SCID, respectively, has further substantiated the importance of cytokines like IL-2, IL-4, IL-7, IL-9, and IL-15 in the development and regulation of the immune system. Moreover, it demonstrates clearly the essential role of JAK-STAT signaling pathway in controlling the immune response.

On the other hand, the identification of two of the disease genes for TB+SCID has made it possible to perform specific mutation analysis, thus allowing correct clinical diagnosis in sporadic cases of TB+SCID and, more importantly, opening the way to prenatal testing and direct assessment of carrier status. These possibilities offer obvious advantages to families during the decision making process of planning and continuing pregnancies Finally, these discoveries assist physicians to schedule and implement clinical management strategies (prenatal and postnatal BMT, gene therapy) for affected children.


Signaling Pathway Gene Therapy Mutation Analysis Disease Gene Significant Advance 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1998

Authors and Affiliations

  • Fabio Candotti
    • 1
  • John J. O'Shea
    • 2
  • Anna Villa
    • 3
  1. 1.Department of PediatricsUniversity of BresciaBresciaItaly
  2. 2.Lymphocyte Cell Biology Section, ARB, NIAMS, NIHBethesdaUSA
  3. 3.Institute of Advanced Biotechnologies of the National Research CouncilMilanItaly

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