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

被引：591

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.

引用

页码：129 / 135

页数：7

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[11] TOWARD A PHYSICAL MAP OF THE GENOME OF THE NEMATODE CAENORHABDITIS-ELEGANS [J].