Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

被引：585
作者：
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
St Basile, GD
Jones, A
Behloradsky, BH
Achatz, H
Murken, J
Fassler, R
Sumegi, J
Romeo, G
Vaudin, M
Ross, MT
Meindl, A
Bentley, DR
机构：
[1] Sanger Ctr, Hinxton CB10 1SA, Cambs, England
[2] LMU, Abt Med Genet, D-80336 Munich, Germany
[3] Max Planck Inst Biochem, D-82152 Martinsried, Germany
[4] Addenbrookes Hosp, Dept Resp Med, Cambridge CB2 2QQ, England
[5] Univ Wurzburg, Kinderklin, D-97080 Wurzburg, Germany
[6] Osped San Paolo, Ist Sci Biomed, Cattedra Gen Umana, Milan, Italy
[7] Univ Pavia, Fac Med 2, Dip Patol Umana & Ereditaria, I-27100 Pavia, Italy
[8] Int Agcy Res Canc, Genet Canc Susceptibil Unit, F-69372 Lyon, France
[9] TIGEM, I-20132 Milan, Italy
[10] Inst Gaslini, Mol Genet Lab, Genoa, Italy
[11] Univ Nebraska, Dept Microbiol & Pathol, Omaha, NE 68182 USA
[12] Royal Free Hosp, Sch Med, Dept Clin Immunol, London, England
[13] Univ Oxford, John Radcliffe Hosp, Inst Mol Med, Oxford OX3 9DS, England
[14] Int Agcy Res Canc, Programme Viral & Hereditary Factors Carcinogenes, F-69372 Lyon, France
[15] Hop Necker Enfants Malad, INSERM, U429, F-75015 Paris, France
[16] Great Ormond St Hosp Sick Children, London WC1N 3JH, England
[17] LMU, Haunersche Immundefektambulanz, D-80336 Munich, Germany
来源：
NATURE GENETICS | 1998年 / 20卷 / 02期
基金：
英国惠康基金;
关键词：
D O I：
10.1038/2424
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.
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页码：129 / 135
页数：7
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