Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs
Article first published online: 17 JAN 2005
Volume 203, Issue 1, pages 127–142, February 2005
How to Cite
Pesu, M., Candotti, F., Husa, M., Hofmann, S. R., Notarangelo, L. D. and O'Shea, J. J. (2005), Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs. Immunological Reviews, 203: 127–142. doi: 10.1111/j.0105-2896.2005.00220.x
- Issue published online: 17 JAN 2005
- Article first published online: 17 JAN 2005
Summary: The recent elucidation of the multiple molecular mechanisms underlying severe combined immunodeficiency (SCID) is an impressive example of the power of molecular medicine. Analysis of patients and the concomitant generation of animal models mimicking these disorders have quickly provided great insights into the pathophysiology of these potentially devastating illnesses. In this review, we summarize the discoveries that led to the understanding of the role of cytokine receptors and a specific tyrosine kinase, Janus kinase 3 (Jak3), in the pathogenesis of SCID. We discuss how the identification of mutations of Jak3 in autosomal recessive SCID has facilitated the diagnosis of these disorders, offered new insights into the biology of this kinase, permitted new avenues for therapy, and provided the rationale for a generation of a new class of immunosuppressants.