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   SH2D1Abase
   Variation registry for  X-linked lymphoproliferative syndrome (XLP)


SH2D1Abase mutation publications

[2008] [2007] [2006] [2005] [2002] [2001] [2000] [1999] [1998] [1997] [1968]

Search PubMed latest citations for SH2D1A mutations

    2008

  • Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female.
    Woon ST, Ameratunga R, Croxson M, Taylor G, Neas K, Edkins E, Browett P, Gane E, Munn S
    Scand J Immunol 2008(2): 153-8 [PubMed abstract].

    2007

  • Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease.
    Hügle B, Astigarraga I, Henter JI, Porwit-MacDonald A, Meindl A, Schuster V
    Eur J Pediatr 2007(6): 589-93 [PubMed abstract].

    2006

  • Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.
    Hare NJ, Ma CS, Alvaro F, Nichols KE, Tangye SG
    Int Immunol 2006(7): 1055-65 [PubMed abstract].

  • X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.
    Alangari A, Abobaker A, Kanegane H, Miyawaki T
    Eur J Pediatr 2006(3): 165-7 [PubMed abstract].

    2005

  • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.
    Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH
    Blood 2005(8): 3066-71 [PubMed abstract].

  • Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.
    Erdõs M, Uzvölgyi E, Nemes Z, Török O, Rákóczi E, Went-Sümegi N, Sümegi J, Maródi L
    Hum Mutat 2005(5): 506 [PubMed abstract].

    2002

  • Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
    Parolini O, Kagerbauer B, Simonitsch-Klupp I, Ambros P, Jaeger U, Mann G, Haas OA, Morra M, Gadner H, Terhorst C, Knapp W, Holter W
    Ann Hematol 2002(8): 441-7 [PubMed abstract].

  • Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.
    Shinozaki K, Kanegane H, Matsukura H, Sumazaki R, Tsuchida M, Makita M, Kimoto Y, Kanai R, Tsumura K, Kondoh T, Moriuchi H, Miyawaki T
    Int Immunol 2002(10): 1215-23 [PubMed abstract].

    2001

  • 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(5): 1321-5 [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(4): 1268-70 [PubMed abstract].

  • Lymphocytic vasculitis in X-linked lymphoproliferative disease.
    Dutz JP, Benoit L, Wang X, Demetrick DJ, Junker A, de Sa D, Tan R
    Blood 2001(1): 95-100 [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 DA, Nichols KE
    Blood 2001(4): 1131-3 [PubMed abstract].

    2000

  • 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 JD, Seemayer TA, Maeda A, Klein G, Seri M, Wakiguchi H, Purtilo DT, Gross TG
    Blood 2000(9): 3118-25 [PubMed abstract].

  • Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
    Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M
    Biochem Biophys Res Commun 2000(1): 124-30 [PubMed abstract].

  • Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.
    Gilmour KC, Cranston T, Jones A, Davies EG, Goldblatt D, Thrasher A, Kinnon C, Nichols KE, Gaspar HB
    Eur J Immunol 2000(6): 1691-7 [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(2): 128-32 [PubMed abstract].

    1999

  • SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
    Yin L, Ferrand V, Lavoué MF, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla BS, Romeo G
    Hum Genet 1999(5): 501-5 [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 FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
    Hum Mol Genet 1999(13): 2407-13 [PubMed abstract].

    1998

  • Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
    Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, Bernard A, Ferguson M, Zuo L, Snyder E, Buckler AJ, Wise C, Ashley J, Lovett M, Valentine MB, Look AT, Gerald W, Housman DE, Haber DA
    Proc Natl Acad Sci U S A 1998(23): 13765-70 [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 MG, Oettgen H, De Vries JE, Aversa G, Terhorst C
    Nature 1998(6701): 462-9 [PubMed abstract].

  • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
    Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR
    Nat Genet 1998(2): 129-35 [PubMed abstract].

    1997

  • 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 CB, Brichacek B, Davis JR, Kozel BA, Trask B, van den Engh G, Uzvolgyi E, Stanbridge EJ, Nelson DL, Chinault C, Heslop H, Gross TG, Seemayer TA, Klein G, Purtilo DT, Sumegi J
    Genomics 1997(1): 55-65 [PubMed abstract].

    1968

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