Primary immunodeficiency diseases: an experimental model for molecular medicine

被引：71

作者：

Fischer, A ^{[1
]}

机构：

[1] Hop Necker Enfants Malad, INSERM, U429, F-75015 Paris, France

来源：

LANCET | 2001年 / 357卷 / 9271期

关键词：

D O I：

10.1016/S0140-6736(00)04959-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Primary immunodeficiency diseases represent a vast array of inherited disorders of the immune system. Major advances in the understanding of genetic basis and molecular mechanisms have occurred within the past 10 years, as a result of the tools of modern genetics. About three quarters of 100 primary immunodeficiency diseases can now be reliably diagnosed with molecular probes. In many cases, gene identification has enabled significant insight into the physiopathology of the related conditions. Therapeutic progress based on protein engineering and possibly gene therapy will also ensue.

引用

页码：1863 / 1869

页数：7

共 62 条

[1] Identification of the homologous beige and Chediak-Higashi syndrome genes [J].

Barbosa, MDFS ;

Nguyen, QA ;

Tchernev, VT ;

Ashley, JA ;

Detter, JC ;

Blaydes, SM ;

Brandt, SJ ;

Chotai, D ;

Hodgman, C ;

Solari, RCE ;

Lovett, M ;

Kingsmore, SF .

NATURE, 1996, 382 (6588) :262-265

[2]

BASILE GD, 1991, J CLIN INVEST, V87, P1352

[3] The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 [J].

Bennett, CL ;

Christie, J ;

Ramsdell, F ;

Brunkow, ME ;

Ferguson, PJ ;

Whitesell, L ;

Kelly, TE ;

Saulsbury, FT ;

Chance, PF ;

Ochs, HD .

NATURE GENETICS, 2001, 27 (01) :20-21

[4] DEFECTIVE DNA-DEPENDENT PROTEIN-KINASE ACTIVITY IS LINKED TO V(D)J RECOMBINATION AND DNA-REPAIR DEFECTS ASSOCIATED WITH THE MURINE SCID MUTATION [J].

BLUNT, T ;

FINNIE, NJ ;

TACCIOLI, GE ;

SMITH, GCM ;

DEMENGEOT, J ;

GOTTLIEB, TM ;

MIZUTA, R ;

VARGHESE, AJ ;

ALT, FW ;

JEGGO, PA ;

JACKSON, SP .

CELL, 1995, 80 (05) :813-823

[5] Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor [J].

Bousso, P ;

Wahn, V ;

Douagi, I ;

Horneff, G ;

Pannetier, C ;

Le Deist, F ;

Zepp, F ;

Niehues, T ;

Kourilsky, P ;

Fischer, A ;

de Saint Basile, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (01) :274-278

[6] Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice [J].

Brown, MP ;

Topham, DJ ;

Sangster, MY ;

Zhao, JF ;

Flynn, KJ ;

Surman, SL ;

Woodland, DL ;

Doherty, PC ;

Farr, AG ;

Pattengale, PK ;

Brenner, MK .

NATURE MEDICINE, 1998, 4 (11) :1253-1260

[7] Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency [J].

Buckley, RH ;

Schiff, SE ;

Schiff, RI ;

Markert, ML ;

Williams, LW ;

Roberts, JL ;

Myers, LA ;

Ward, FE .

NEW ENGLAND JOURNAL OF MEDICINE, 1999, 340 (07) :508-516

[8]

Bykowsky MJ, 1996, AM J HUM GENET, V58, P477

[9] Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease [J].

Cavazzana-Calvo, M ;

Hacein-Bey, S ;

Basile, CD ;

Gross, F ;

Yvon, E ;

Nusbaum, P ;

Selz, F ;

Hue, C ;

Certain, S ;

Casanova, JL ;

Bousso, P ;

Le Deist, F ;

Fischer, A .

SCIENCE, 2000, 288 (5466) :669-672

[10] 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

← 1 2 3 4 5 6 7 →