SH2D1A mutations in Japanese males with severe Epstein-Barr virus-associated illnesses

Blood

Volumn 98, Issue 4, 2001, Pages 1268-1270

  Sumazaki, Ryo ^a,b,c,d   Kanegane, Hirokazu ^a,b,c,d   Osaki, Maki ^a,b,c,d   Fukushima, Takashi ^a,b,c,d   Tsuchida, Masahiro ^a,b,c,d   Matsukura, Hiroyoshi ^a,b,c,d   Shinozaki, Kentaro ^a,b,c,d   Kimura, Hiroshi ^a,b,c,d   Matsui, Akira ^a,b,c,d   Miyawaki, Toshio ^a,b,c,d  

^a UNIVERSITY OF TSUKUBA HOSPITAL   (Japan)

^b TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^c Ibaraki Children's Hospital   (Japan)

^d NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN SHD1A; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; B CELL LYMPHOMA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CONVALESCENCE; EPSTEIN BARR VIRUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HYPERIMMUNOGLOBULINEMIA M; HYPOGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; INFANT; INFECTIOUS MONONUCLEOSIS; JAPAN; LYMPHOMA; LYMPHOPROLIFERATIVE DISEASE; MALE; NEWBORN; PRIORITY JOURNAL; VIRUS INFECTION; VIRUS REPLICATION; X CHROMOSOME LINKAGE;

EID: 0035883052     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V98.4.1268     Document Type: Article

References (22)

1. Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975;1:935-940.
2. Seemayer TA, Gross TG, Egeler RM, et al. Xlinked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res. 1995;38:471-478.
3. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20:129-135.
4. Sayos J, Wu C, Morra M, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 1998;395:462-469.
5. Nichols KE, Harkin DP, Levitz S, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1998;95:13765-13770.
6. Sumegi J, Huang D, Lanyl A, et al. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood. 2000;96:3118-3125.
7. Mroczek EC, Weisenburger DD, Grierson HL, Markin R, Purtilo DT. Fatal infectious mononucleosis and virus-associated hemophagocytic syndrome. Arch Pathol Lab Med. 1987;111:530-535.
8. Honda K, Kanegane H, Eguchi M, et al. Large deletion of the X-linked lymphoproliferative disease gene detected by fluorescence in situ hybridization. Am J Hematol. 2000;64:128-132.
9. Henter JI, Elinder G, Ost A. Diagnostic guidelines for hemophagocytic lymphohistiocytosis: the FHL Study Group of the Histiocyte Society. Semin Oncol. 1991;18:29-33.
10. Imai S, Sugiura M, Oikawa O, et al. Epstein-Barr virus (EBV)-carrying and -expressing T-cell lines established from severe chronic active EBV infection. Blood. 1996;87:1446-1457.
11. Straus SE. The chronic mononucleosis syndrome. J Infect Dis. 1988;157:405-412.
12. Okano M, Matsumoto S, Osato T, Sakiyama Y, Thiele GM, Purtilo DT. Severe chronic active Epstein-Barr virus infection syndrome. Clin Microbiol Rev. 1991;4:129-135.
13. Mala DM, Peace-Brewer AL. Chronic, active Epstein-Barr virus infection. Curr Opin Hematol. 2000;7:59-63.
14. Tangye SG, Lazetic S, Woollatt E, Sutherland GR, Lanier LL, Phillips JH. Human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol. 1999;162:6981-6985.
15. Yin L, Ferrand V, Lavoue MF, et al. SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. Hum Genet. 1999;105:501-505.
16. Li X, Park WJ, Pyeritz RE, Jabs EW. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nat Genet. 1995;9:232-233.
17. Brandau O, Schuster V, Weiss M, et al. 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. 1999;8:2407-2413.
18. Purtilo DT, Zelkowitz L, Harada S, et al. Delayed onset of infectious mononucleosis associated with acquired agammaglobulinemia and red cell aplasia. Ann Intern Med. 1984;101:180-186.
19. Kimura H, Morita M, Yabuta Y, et al. Quantitative analysis of Epstein-Barr virus load by using a real-time PCR assay. J Clin Microbiol. 1999;37:132-136.
20. Tangye SG, Phillips JH, Lanier LL, Nichols KE. Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome. J Immunol. 2000;165:2932-2936.
21. Parolini S, Bottino C, Falco M, et al. X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med. 2000;192:337-346.
22. Sullivan JL. The abnormal gene in X-linked lymphoproliferative syndrome. Curr Opin Immunol. 1999;11:431-434.