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Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs
Author(s) -
Pesu Marko,
Candotti Fabio,
Husa Matthew,
Hofmann Sigrun R.,
Notarangelo Luigi D.,
O'Shea John J.
Publication year - 2005
Publication title -
immunological reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.839
H-Index - 223
eISSN - 1600-065X
pISSN - 0105-2896
DOI - 10.1111/j.0105-2896.2005.00220.x
Subject(s) - severe combined immunodeficiency , janus kinase 3 , janus kinase , biology , immunodeficiency , immunology , primary immunodeficiency , bruton's tyrosine kinase , bioinformatics , computational biology , tyrosine kinase , immune system , cytokine , signal transduction , genetics , gene , t cell , antigen presenting cell
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.