SH2D1Abase mutation publications

Search PubMed latest citations for SH2D1A mutations

  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.
    Morra, M., Silander, O., Calpe, S., Choi, M., Oettgen, H., Myers, L., Etzioni, A., Buckley, R., Terhorst, C.
    Blood 2001 98(5): 1321-1325 [PubMed abstract].

  • SH2D1A mutations in japanese males with severe epstein-barr virus--associated illnesses.
    Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T., Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H., Matsui, A., Miyawaki, T.
    Blood 2001 98(4): 1268-1270 [PubMed abstract].

  • Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
    Arico, M., Imashuku, S., Clementi, R., Hibi, S., Teramura, T., Danesino, C., Haber, D. A., Nichols, K. E.
    Blood 2001 97(4): 1131-1133 [PubMed abstract].

  • Lymphocytic vasculitis in X-linked lymphoproliferative disease.
    Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J., Junker, A., de Sa, D., Tan, R.
    Blood 2001 97(1): 95-100 [PubMed abstract].

  • Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
    Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer, T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H., Purtilo, D. T., Gross, T. G.
    Blood 2000 96(9): 3118-3125 [PubMed abstract].

  • Large deletion of the X-linked lymphoproliferative disease gene detected by fluorescence in situ hybridization.
    Honda, K., Kanegane, H., Eguchi, M., Kimura, H., Morishima, T., Masaki, K., Tosato, G., Miyawaki, T., Ishii, E.
    Am J Hematol 2000 64(2): 128-132 [PubMed abstract].

  • Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
    Lappalainen, I., Giliani, S., Franceschini, R., Bonnefoy, J. Y., Duckett, C., Notarangelo, L. D., Vihinen, M.
    Biochem Biophys Res Commun 2000 269(1): 124-130 [PubMed abstract].

  • SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
    Yin, L., Ferrand, V., Lavoué, M. F., Hayoz, D., Philippe, N., Souillet, G., Seri, M., Giacchino, R., Castagnola, E., Hodgson, S., Sylla, B. S., Romeo, G.
    Hum Genet 2000 105(5): 501-505 [PubMed abstract].

  • Epstein-barr virus-negative boys with non-hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
    Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., Fink, F. M., Kreczy, A., Friedrich, W., Strahm, B., Niemeyer, C., Belohradsky, B. H., Meindl, A.
    Hum Mol Genet 2000 8(13): 2407-2413 [PubMed abstract].

  • Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
    Nichols, K. E., Harkin, D. P., Levitz, S., Krainer, M., Kolquist, K. A., Genovese, C., Bernard, A., Ferguson, M., Zuo, L., Snyder, E., Buckler, A. J., Wise, C., Ashley, J., Lovett, M., Valentine, M. B., Look, A. T., Gerald, W., Housman, D. E., Haber, D. A.
    Proc Natl Acad Sci U S A 1998 95(23): 13765-13770 [PubMed abstract].

  • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
    Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen, D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo, M. G., Oettgen, H., De Vries, J. E., Aversa, G., Terhorst, C.
    Nature 1998 395(6701): 462-469 [PubMed abstract].

  • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
    Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M., Huckle, E., Shaw-Smith, C. J., Dunham, A., Rhodes, S., Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B., Zollo, M., Franco, B., Bentley, D. R.
    Nat Genet 1998 20(2): 129-135 [PubMed abstract].

  • A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus.
    Lanyi, A., Li, B., Li, S., Talmadge, C. B., Brichacek, B., Davis, J. R., Kozel, B. A., Trask, B., van den Engh, G., Uzvolgyi, E., Stanbridge, E. J., Nelson, D. L., Chinault, C., Heslop, H., Gross, T. G., Seemayer, T. A., Klein, G., Purtilo, D. T., Sumegi, J.
    Genomics 1997 39(1): 55-65 [PubMed abstract].

  • Hereditary alterations in the immune response: coexistence of "agammaglobulinemia", acquired hypogammaglobulinemia and selective immunoglobulin deficiency in a sibship.
    Buckley, R. H., Sidbury, J. B.
    Pediatr Res 1968 2(2): 72-84 [PubMed abstract].




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