Conclusions
The recent elucidation of the molecular basis of T−B+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 T−B+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 T−B+SCID has made it possible to perform specific mutation analysis, thus allowing correct clinical diagnosis in sporadic cases of T−B+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.
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Candotti, F., O'Shea, J.J. & Villa, A. Severe combined immune deficiencies due to defects of the common γ chain-JAK3 signaling pathway. Springer Semin Immunopathol 19, 401–415 (1998). https://doi.org/10.1007/BF00792599
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DOI: https://doi.org/10.1007/BF00792599