Potential targets for autosomal SCID mutations - PubMed (original) (raw)
Review
Potential targets for autosomal SCID mutations
G E Taccioli et al. Curr Opin Immunol. 1995 Aug.
Abstract
Significant advances have been recently made in the molecular characterization of genes that encode proteins with activities that are directly, or indirectly, involved in the assembly of antigen receptor variable region genes. Such genes are candidate targets for human autosomal mutations that lead to severe combined immune deficiencies characterized by a lack of both T and B cells.
Similar articles
- Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, et al. Macchi P, et al. Nature. 1995 Sep 7;377(6544):65-8. doi: 10.1038/377065a0. Nature. 1995. PMID: 7659163 - Equine SCID: mechanistic analysis and comparison with murine SCID.
Leber R, Wiler R, Perryman LE, Meek K. Leber R, et al. Vet Immunol Immunopathol. 1998 Sep 16;65(1):1-9. doi: 10.1016/s0165-2427(98)00174-3. Vet Immunol Immunopathol. 1998. PMID: 9802572 - Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency.
Abe T, Tsuge I, Kamachi Y, Torii S, Utsumi K, Akahori Y, Ichihara Y, Kurosawa Y, Matsuoka H. Abe T, et al. J Immunol. 1994 Jun 1;152(11):5504-13. J Immunol. 1994. PMID: 8189068 - The mechanism of V(D)J recombination: site-specificity, reaction fidelity and immunologic diversity.
Lieber MR, Chang CP, Gallo M, Gauss G, Gerstein R, Islas A. Lieber MR, et al. Semin Immunol. 1994 Jun;6(3):143-53. doi: 10.1006/smim.1994.1020. Semin Immunol. 1994. PMID: 7948954 Review. - [Severe combined immunodeficiency: From its discovery to the perspective].
Kanegane H, Imai K, Morio T. Kanegane H, et al. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(3):145-154. doi: 10.2177/jsci.40.145. Nihon Rinsho Meneki Gakkai Kaishi. 2017. PMID: 28747600 Review. Japanese.
Cited by
- Cellular and molecular basis of immunodeficiencies: their consequences for the development and induction of the immune response.
Sterzl J. Sterzl J. Folia Microbiol (Praha). 1998;43(5):535-42. doi: 10.1007/BF02820815. Folia Microbiol (Praha). 1998. PMID: 9821321 Review. - A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, Le Deist F, Fischer A, de Villartay JP. Nicolas N, et al. J Exp Med. 1998 Aug 17;188(4):627-34. doi: 10.1084/jem.188.4.627. J Exp Med. 1998. PMID: 9705945 Free PMC article. - Genetic pathway to recurrent chromosome translocations in murine lymphoma involves V(D)J recombinase.
Vanasse GJ, Halbrook J, Thomas S, Burgess A, Hoekstra MF, Disteche CM, Willerford DM. Vanasse GJ, et al. J Clin Invest. 1999 Jun;103(12):1669-75. doi: 10.1172/JCI6658. J Clin Invest. 1999. PMID: 10377173 Free PMC article. - Hypersensitivity of Ku80-deficient cell lines and mice to DNA damage: the effects of ionizing radiation on growth, survival, and development.
Nussenzweig A, Sokol K, Burgman P, Li L, Li GC. Nussenzweig A, et al. Proc Natl Acad Sci U S A. 1997 Dec 9;94(25):13588-93. doi: 10.1073/pnas.94.25.13588. Proc Natl Acad Sci U S A. 1997. PMID: 9391070 Free PMC article. - Ku70-deficient embryonic stem cells have increased ionizing radiosensitivity, defective DNA end-binding activity, and inability to support V(D)J recombination.
Gu Y, Jin S, Gao Y, Weaver DT, Alt FW. Gu Y, et al. Proc Natl Acad Sci U S A. 1997 Jul 22;94(15):8076-81. doi: 10.1073/pnas.94.15.8076. Proc Natl Acad Sci U S A. 1997. PMID: 9223317 Free PMC article.