Severe combined immunodeficiency - molecular pathogenesis and diagnosis

被引：26
作者：
Gaspar, HB
Gilmour, KC
Jones, AM
机构：
[1] Inst Child Hlth, Mol Immunol Unit, London WC1N 1EH, England
[2] Great Ormond St Hosp Children NHS Trust, Camelia Botnar Labs, Clin Immunol Lab, London WC1N 3JH, England
[3] Great Ormond St Hosp Children NHS Trust, Dept Immunol, London WC1N 3JH, England
来源：
ARCHIVES OF DISEASE IN CHILDHOOD | 2001年 / 84卷 / 02期
关键词：
D O I：
10.1136/adc.84.2.169
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
As we enter the post genome era, the genes responsible for many different types of SCID have been identified and it is very likely that many more will follow. The challenge remains to use this information to expand our understanding of the pathogenesis of the disease and to continue to develop improved methods of diagnosis and treatment for affected individuals.
引用
收藏
页码：169 / 173
页数：5
相关论文
共 51 条
[1]   RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination [J].
Agrawal, A ;
Schatz, DG .
CELL, 1997, 89 (01) :43-53
[2]   FAMILIAL DEFECT IN THE SURFACE EXPRESSION OF THE T-CELL RECEPTOR CD3 COMPLEX [J].
ALARCON, B ;
REGUEIRO, JR ;
ARNAIZVILLENA, A ;
TERHORST, C .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (18) :1203-1208
[3]   DEFECTIVE T-CELL RECEPTOR SIGNALING AND CD8(+) THYMIC SELECTION IN HUMANS LACKING ZAP-70 KINASE [J].
ARPAIA, E ;
SHAHAR, M ;
DADI, H ;
COHEN, A ;
ROIFMAN, CM .
CELL, 1994, 76 (05) :947-958
[4]   Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles [J].
Arredondo-Vega, FX ;
Santisteban, I ;
Daniels, S ;
Toutain, S ;
Hershfield, MS .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) :1049-1059
[5]  
Arrendondo-Vega F X, 1998, Hum Mutat, V11, P482, DOI 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU14>3.0.CO
[6]  
2-H
[7]   CLASS-II-ANTIGEN-NEGATIVE PATIENT AND MUTANT B-CELL LINES REPRESENT AT LEAST 3, AND PROBABLY 4, DISTINCT GENETIC-DEFECTS DEFINED BY COMPLEMENTATION ANALYSIS [J].
BENICHOU, B ;
STROMINGER, JL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (10) :4285-4288
[8]  
BENVENISTE P, 1995, J IMMUNOL, V155, P536
[9]   V(D)J recombination in Ku86-deficient mice: Distinct effects on coding, signal, and hybrid joint formation [J].
Bogue, MA ;
Wang, CY ;
Zhu, CM ;
Roth, DB .
IMMUNITY, 1997, 7 (01) :37-47
[10]   GENE-THERAPY IN PERIPHERAL-BLOOD LYMPHOCYTES AND BONE-MARROW FOR ADA(-) IMMUNODEFICIENT PATIENTS [J].
BORDIGNON, C ;
NOTARANGELO, LD ;
NOBILI, N ;
FERRARI, G ;
CASORATI, G ;
PANINA, P ;
MAZZOLARI, E ;
MAGGIONI, D ;
ROSSI, C ;
SERVIDA, P ;
UGAZIO, AG ;
MAVILIO, F .
SCIENCE, 1995, 270 (5235) :470-475
123456