SEVERE COMBINED IMMUNODEFICIENCY DUE TO A SPECIFIC DEFECT IN THE PRODUCTION OF INTERLEUKIN-2

被引:131
作者
WEINBERG, K
PARKMAN, R
机构
[1] UNIV SO CALIF,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90033
[2] UNIV SO CALIF,SCH MED,DEPT MICROBIOL,LOS ANGELES,CA 90033
关键词
D O I
10.1056/NEJM199006143222406
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
SEVERE combined immunodeficiency (SCID) syndrome is caused by a group of genetic diseases characterized by abnormal function of T and B lymphocytes.1 SCID was first described in children with lymphopenia, agammaglobulinemia, and absent proliferative responses to T-lymphocyte mitogens, such as phytohemagglutinin. Since the original description of X-linked lymphopenic SCID (the so-called Swiss type of agammaglobulinemia), other children have been found to have SCID due to the absence of the enzyme adenosine deaminase, which is required for the development of T lymphocytes. Together, the X-linked and adenosine deaminase—deficient forms of SCID account for approximately 40 to 50 percent of all cases … © 1990, Massachusetts Medical Society. All rights reserved.
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页码:1718 / 1723
页数:6
相关论文
共 39 条
[1]   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
[2]   AN IMMUNODEFICIENCY CHARACTERIZED BY DEFECTIVE SIGNAL TRANSDUCTION IN LYMPHOCYTES-T [J].
CHATILA, T ;
WONG, R ;
YOUNG, M ;
MILLER, R ;
TERHORST, C ;
GEHA, RS .
NEW ENGLAND JOURNAL OF MEDICINE, 1989, 320 (11) :696-702
[3]  
CHOMCZYNSKI P, 1987, ANAL BIOCHEM, V162, P156, DOI 10.1016/0003-2697(87)90021-2
[4]   IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN-1 [J].
CHU, ET ;
ROSENWASSER, LJ ;
DINARELLO, CA ;
ROSEN, FS ;
GEHA, RS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (15) :4945-4949
[5]   CONTINGENT GENETIC REGULATORY EVENTS IN LYMPHOCYTE-T ACTIVATION [J].
CRABTREE, GR .
SCIENCE, 1989, 243 (4889) :355-361
[6]  
DOI S, 1988, CLIN IMMUNOL IMMUNOP, V46, P24, DOI 10.1016/0090-1229(88)90003-7
[7]   CHARACTERIZATION OF ANTIGEN RECEPTOR RESPONSE ELEMENTS WITHIN THE INTERLEUKIN-2 ENHANCER [J].
DURAND, DB ;
SHAW, JP ;
BUSH, MR ;
REPLOGLE, RE ;
BELAGAJE, R ;
CRABTREE, GR .
MOLECULAR AND CELLULAR BIOLOGY, 1988, 8 (04) :1715-1724
[8]   CYCLOSPORINE-A SPECIFICALLY INHIBITS FUNCTION OF NUCLEAR PROTEINS INVOLVED IN T-CELL ACTIVATION [J].
EMMEL, EA ;
VERWEIJ, CL ;
DURAND, DB ;
HIGGINS, KM ;
LACY, E ;
CRABTREE, GR .
SCIENCE, 1989, 246 (4937) :1617-1620
[9]  
FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266
[10]   STRUCTURE OF THE HUMAN INTERLEUKIN-2 GENE [J].
FUJITA, T ;
TAKAOKA, C ;
MATSUI, H ;
TANIGUCHI, T .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (24) :7437-7441