The abnormal gene in X-linked lymphoproliferative syndrome

被引：19

作者：

Sullivan, JL ^{[1
]}

机构：

[1] Univ Massachusetts, Sch Med, Program Mol Med, Worcester, MA 01605 USA

来源：

CURRENT OPINION IN IMMUNOLOGY | 1999年 / 11卷 / 04期

关键词：

D O I：

10.1016/S0952-7915(99)80072-7

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

The gene defect responsible for X-linked lymphoproliferative syndrome, SH2D1A (SH2-domain-containing gene 1A), was recently cloned. This gene encodes a small protein of 128 amino acids containing a single SH2 domain, which is thought to play an important role in signal transduction in activated T cells. The definition of SH2D1A protein function will provide insight into the pathogenesis of fatal Epstein-Barr virus infection, lymphomas, Hodgkins disease, immunodeficiency, aplastic anemia and lymphohistiocytic disorders that characterize the syndrome.

引用

页码：431 / 434

页数：4

共 16 条

[1] Direct visualization of antigen-specific CD8+ T cells during the primary immune response to Epstein-Barr virus in vivo [J].

Callan, MFC ;

Tan, L ;

Annels, N ;

Ogg, GS ;

Wilson, JDK ;

O'Callaghan, CA ;

Steven, N ;

McMichael, AJ ;

Rickinson, AB .

JOURNAL OF EXPERIMENTAL MEDICINE, 1998, 187 (09) :1395-1402

[2] Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene [J].

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 .

NATURE GENETICS, 1998, 20 (02) :129-135

[3] X-LINKED LYMPHOPROLIFERATIVE SYNDROME REGISTRY REPORT [J].

HAMILTON, JK ;

PAQUIN, LA ;

SULLIVAN, JL ;

MAURER, HS ;

CRUZI, FG ;

PROVISOR, AJ ;

STEUBER, CP ;

HAWKINS, E ;

YAWN, D ;

CORNET, JA ;

CLAUSEN, K ;

FINKELSTEIN, GZ ;

LANDING, B ;

GRUNNET, M ;

PURTILO, DT .

JOURNAL OF PEDIATRICS, 1980, 96 (04) :669-673

[4] CELL-MEDIATED-IMMUNITY TO EPSTEIN-BARR VIRUS (EBV) AND NATURAL-KILLER (NK)-CELL ACTIVITY IN THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME [J].

HARADA, S ;

BECHTOLD, T ;

SEELEY, JK ;

PURTILO, DT .

INTERNATIONAL JOURNAL OF CANCER, 1982, 30 (06) :739-744

[5] Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome [J].

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 .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (23) :13765-13770

[6]

PURTILO D T, 1975, Lancet, V1, P935

[7] VARIABLE PHENOTYPIC EXPRESSION OF AN X-LINKED RECESSIVE LYMPHOPROLIFERATIVE SYNDROME [J].

PURTILO, DT ;

DEFLORIO, D ;

HUTT, LM ;

BHAWAN, J ;

YANG, JPS ;

OTTO, R ;

EDWARDS, W .

NEW ENGLAND JOURNAL OF MEDICINE, 1977, 297 (20) :1077-1081

[8]

ROUSSET F, 1986, CLIN EXP IMMUNOL, V63, P280

[9] The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM [J].

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, 395 (6701) :462-469

[10]

Schuster V, 1999, PRIMARY IMMUNODEFICIENCY DISEASES, P222

← 1 2 →