X-linked severe combined immunodeficiency: from molecular cause to gene therapy within seven years

Molecular Medicine Today - Tập 6 - Trang 403-407 - 2000
Warren J Leonard1
1Laboratory of Molecular Immunology, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA

Tài liệu tham khảo

Buckley, 1997, Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred and eight infants, J. Pediatr., 130, 378, 10.1016/S0022-3476(97)70199-9 Fischer, 1997, Naturally occurring primary deficiencies of the immune system, Annu. Rev. Immunol., 15, 93, 10.1146/annurev.immunol.15.1.93 Leonard, 1996, The molecular basis of X-linked severe combined immuno-deficiency: defective cytokine receptor signaling, Annu. Rev. Med., 47, 229, 10.1146/annurev.med.47.1.229 Noguchi, 1993, Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans, Cell, 73, 147, 10.1016/0092-8674(93)90167-O Takeshita, 1992, Cloning of the γ chain of the human IL-2 receptor, Science, 257, 379, 10.1126/science.1631559 Leonard, 1998, Jaks and STATs – biological implications, Annu. Rev. Immunol., 16, 293, 10.1146/annurev.immunol.16.1.293 Russell, 1994, Interaction of IL-2R β and γc chains with Jak1 and Jak3: implications for XSCID and SCID, Science, 266, 1042, 10.1126/science.7973658 Macchi, 1995, Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID), Nature, 377, 65, 10.1038/377065a0 Russell, 1995, Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development, Science, 270, 797, 10.1126/science.270.5237.797 Von Freeden-Jeffry, 1995, Lymphopenia in interleukin (IL)-7 gene-deleted mice identified IL-7 as a nonredundant cytokine, J. Exp. Med., 181, 1519, 10.1084/jem.181.4.1519 Peschon, 1994, Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice, J. Exp. Med., 180, 1955, 10.1084/jem.180.5.1955 Puel, 1998, Defective IL7R expression in T−B+NK+ severe combined immunodeficiency, Nat. Genet., 20, 394, 10.1038/3877 Puel, 2000, Interleukin-7 receptor α chain-dependent signaling is required for T-cell development: basis for T−B+NK+ severe combined immunodeficiencies in humans, 51 Kennedy, 2000, Reversible defects in natural killer and memory CD8 T cell lineages in interleukin 15-deficient mice, J. Exp. Med., 191, 771, 10.1084/jem.191.5.771 Lodolce, 1998, IL-15 receptor maintains lymphoid homeostasis by supporting lymphocyte homing and proliferation, Immunity, 9, 669, 10.1016/S1074-7613(00)80664-0 Renauld, 1994, Thymic lymphomas in interleukin 9 transgenic mice, Oncogene, 9, 1327 Nakajima, 1997, An indirect effect of Stat5a in IL-2-induced proliferation: a critical role for Stat5a in IL-2-mediated IL-2 receptor α chain induction, Immunity, 7, 691, 10.1016/S1074-7613(00)80389-1 Imada, 1998, Stat5b is essential for natural killer cell-mediated proliferation and cytolytic activity, J. Exp. Med., 188, 2067, 10.1084/jem.188.11.2067 Puel, A. and Leonard, W.J. Mutations in the IL7R gene result in T−B+NK+ SCID. Curr. Opin. Immunol. (in press) Moriggl, 1999, Stat5 is required for IL-2-induced cell cycle progression of peripheral T cells, Immunity, 10, 249, 10.1016/S1074-7613(00)80025-4 Suzuki, 1995, Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor, Science, 268, 1472, 10.1126/science.7770771 Buckley, 1999, Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency, New Engl. J. Med., 340, 508, 10.1056/NEJM199902183400703 Felsburg, 1999, Canine X-linked severe combined immunodeficiency, Vet. Immunol. Immunopathol., 69, 127, 10.1016/S0165-2427(99)00049-5 DiSanto, 1995, Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor γ chain, Proc. Natl. Acad. Sci. U. S. A., 92, 377, 10.1073/pnas.92.2.377 Cao, 1995, Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain, Immunity, 2, 223, 10.1016/1074-7613(95)90047-0 Lo, 1999, Restoration of lymphoid populations in a murine model of X-linked severe combined immunodeficiency by a gene-therapy approach, Blood, 94, 3027, 10.1182/blood.V94.9.3027 Soudais, 2000, Stable and functional lymphoid reconstitution of common cytokine receptor γ chain deficient mice by retroviral-mediated gene transfer, Blood, 95, 3071, 10.1182/blood.V95.10.3071 Cavazzana-Calvo, 2000, Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease, Science, 288, 669, 10.1126/science.288.5466.669 Anderson, 2000, Perspectives: Gene therapy. The best of times, the worst of times, Science, 288, 627, 10.1126/science.288.5466.627 Bunting, 1998, Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer, Nat. Med., 4, 58, 10.1038/nm0198-058