Absence of SLAM mutations in EBV-associated lymphoproliferative disease patients

Journal of Medical Virology

Volumn 70, Issue 1, 2003, Pages 131-136

  Ferrand, Véronique ^a   Li, Cuiling ^a   Romeo, Giovanni ^a   Yin, Luo ^a  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

Genetic organisation; Heteroduplex analysis; Single nucleotide polymorphisms; SSCP

Indexed keywords

ADAPTOR PROTEIN; CD2 ANTIGEN; HETERODUPLEX;

ARTICLE; B LYMPHOCYTE; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE TRANSMISSION; DNA SCREENING; DNA SPLICING; DSHP GENE; EXON; GENE ISOLATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOPROLIFERATIVE DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN ANALYSIS; SAP GENE; SH2D1A GENE; SIGNAL TRANSDUCTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SLAM GENE; SYMPTOMATOLOGY; T LYMPHOCYTE; X CHROMOSOME LINKED DISORDER;

ANTIGENS, CD; CELL LINE; CHROMOSOMES, HUMAN, X; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; GENOME, HUMAN; GLYCOPROTEINS; HERPESVIRUS 4, HUMAN; HUMANS; IMMUNOGLOBULINS; LYMPHOPROLIFERATIVE DISORDERS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE;

HUMAN HERPESVIRUS 4;

EID: 0037401370     PISSN: 01466615     EISSN: None     Source Type: Journal    
DOI: 10.1002/jmv.10373     Document Type: Article

References (30)

1. Aversa G, Carballido J, Punnonen J, Chang C-CJ, Hauser T, Cocks BG, De Vries JE. 1997. SLAM and its role in T cell activation and Th cell responses. Immunol Cell Biol 75:202-205.
2. Benkwitz C, Oberdorf-Maass S, Neyses L. 1999. Combined SSCP and heteroduplex analysis of the human plasma membrane Ca(2+)- ATPase isoform 1 in patients with essential hypertension. Biochem Biophys Res Commun 261:515-520.
3. Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A. 2001. GNTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. J Exp Med 194:235-246.
4. Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky B, Meindl A. 1999. Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum Mol Genet 8:2407-2413.
5. Castro AG, Hauser TM, Cocks BG, Abrams J, Zurawski S, Churakova T, Zonin F, Robinson D, Tangye SG, Aversa G, Nichols KE, De Vries JE, Lanier LL, O'Garra A. 1999. Molecular and functional characterization of mouse signaling lymphocytic activation molecule (SLAM): differential expression and responsiveness in Th1 and Th2 cells. J Immunol 163:5860-5870.
6. Cocks BG, Chang C-CJ, Carballido JM, Yssel H, De Vries JE, Aversa G. 1995. A novel receptor involved in T-cell activation. Nature 376: 260-263.
7. 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. 1998. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in SH2-domain encoding gene. Nat Genet 20:129-135.
8. Fleisher G, Starr S, Koven N, Kamiya H, Douglas SD, Henle W. 1982. A non-X-linked syndrome with susceptibility to severe Epstein-Barr virus infections. J Pediatr 100:727-730.
9. Fraser CC, Howie D, Morra M, Qiu Y, Murphy C, Shen Q, Gutierrez-Ramos JC, Coyle A, Kingsbury GA, Terhorst C. 2002. Identification and characterization of SF2000 and SF2001, two new members of the immune receptor SLAM/CD2 family. Immunogenetics 53:843-850.
10. Gilmour KC, Cranston T, Jones A, Davies EG, Goldblatt D, Thrasher A, Kinnon C, Nichols KE, Gaspar HB. 2000. Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression. Eur J Immunol 30:1691-1697.
11. Grierson HL, Skare J, Hawk J, Panza M, Purtillo DT. 1991. Immunoglobulin class and subclass deficiencies prior to EBV infection in males with X-linked lymphoproliferative disease (XLP). Am J Hum Genet 40:294-297.
12. Harrington DS, Weisenburger DD, Purtillo DT. 1987. Malignant lymphoma in the X-linked lymphoproliferative syndrome. Cancer 59:1419-1429.
13. Joncas JH, Ghibu F, Blagdon M, Montplaisir S, Stefanescu I, Menezes J. 1984. A familial syndrome of susceptibility to chronic active Epstein-Barr virus infection. Can Med Assoc J 130:280-285.
14. Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M. 2000. Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. Biochem Biophys Res Commun 269:124-130.
15. Latour S, Gish G, Helgason CD, Humphries RK, Pawson T, Veillette A. 2001. Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product. Nat Immunol 2:681-690.
16. Liechti-Gallati S, Schneider V, Neeser D, Kraemer R. 1999. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur J Hum Genet 7:590-598.
17. 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. 1998. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA 95:13765-13770.
18. Punnonen J, Cocks BG, Carballido JM, Bennett B, Peterson D, Aversa G, De Vries JE. 1997. Soluble and membrane-bound forms of signaling lymphocytic activation molecule (SLAM) induce proliferation and Ig synthesis by activated human B lymphocytes. J Exp Med 185:993-1004.
19. Purtilo DT, Grierson HL. 1991. Methods of detection of new families with X-linked lymphoproliferative disease (XLP). Cancer Genet Cytogenet 51:143-153.
20. Purtilo DT, Cassel CK, Yang JP, Harper R. 1975. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1:935-940.
21. Purtilo DT, Sakamoto K, Barnabei V, Seeley J, Bechtold T, Rogers G, Yetz J, Harada S. 1982. Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on the studies of the registry. Am J Med 73:49-56.
22. 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. 1998. The X-linked lymphoproliferative-disease gene product SAP regulates signals induces through the coreceptor SLAM. Nature 395:462-469.
23. Sayos J, Martin M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C. 2001. Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP. Blood 97:3867-3874.
24. Schuster V, Kreth HW. 1999. X-linked lymphoproliferative disease. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency disease, a molecular and genetic approach. New York: Oxford University Press. p 222-232.
25. Seemayer TA, Gross TG, Egeler RM, Pirruccello SJ, Davis JR, Kelly CM, Okano M, Lanyi A, Sumegi J. 1995. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res 38: 471-478.
26. Strahm B, Rittweiler K, Duffner U, Brandau O, Orlowska-Volk M, Karajannis MA, Stadt U, Tiemann M, Reiter A, Brandis M, Meindl A, Niemeyer CM. 2000. Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. Br J Haematol 108:377-382.
27. Sumegi J, Huang D, Lanyi A, Davis JD, Seemayer TA, Maeda A, Klein G, Seri M, Wakiguchi H, Purtillo DT, Gross TG. 2000. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 96:3118-3125.
28. Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E. 2000. The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-κB. Proc Natl Acad Sci USA 97:7470-7475.
29. Tangye SG, Lazetic S, Woollatt E, Sutherland GR, Lanier LL, Phillips JH. 1999. Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol 162:6981-6985.
30. Yin L, Ferrand V, Lavoué M-F, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla BS, Romeo G. 1999. SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. Hum Genet 105:501-550.