Genetic basis of abnormal B cell development

被引:62
作者
Conley, ME
Cooper, MD
机构
[1] Univ Alabama, Dept Med, Birmingham, AL 35294 USA
[2] Univ Alabama, Dept Pediat, Birmingham, AL 35294 USA
[3] Univ Alabama, Dept Pathol & Microbiol, Birmingham, AL 35294 USA
[4] Howard Hughes Med Inst, Birmingham, AL 35294 USA
[5] Univ Tennessee, Sch Med, Dept Pediat, Dept Immunol,St Jude Childrens Res Hosp, Memphis, TN 38105 USA
关键词
D O I
10.1016/S0952-7915(98)80112-X
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
A susceptibility gene in the MHC class III region may underlie the defective B-cell differentiation in familial IgA deficiency and common variable immunodeficiency. Mutations in Bruton's tyrosine kinase, immunoglobulin heavy chain and lambda 5/14,1 surrogate light chain loci disrupt B-cell development to cause profound antibody deficiency Mutational, biochemical and transgenic studies offer insight into the function of these and other 'antibody deficiency genes'.
引用
收藏
页码:399 / 406
页数:8
相关论文
共 76 条
[1]   Direct stimulation of Bruton's tyrosine kinase by G(q)-protein alpha-subunit [J].
Bence, K ;
Ma, W ;
Kozasa, T ;
Huang, XY .
NATURE, 1997, 389 (6648) :296-299
[2]   Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia [J].
Brooimans, RA ;
vanderBerg, AJAM ;
Rijkers, GT ;
Sanders, LAM ;
vanAmstel, JKP ;
Tilanus, MGJ ;
Grubben, MJAL ;
Zegers, BJM .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (06) :484-488
[3]   IgA deficiency [J].
Burrows, PD ;
Cooper, MD .
ADVANCES IN IMMUNOLOGY, VOL 65, 1997, 65 :245-276
[4]  
Bykowsky MJ, 1996, AM J HUM GENET, V58, P477
[5]   Mutations in Btk in patients with presumed X-linked agammaglobulinemia [J].
Conley, ME ;
Mathias, D ;
Treadaway, J ;
Minegishi, Y ;
Rohrer, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) :1034-1043
[6]   SCREENING OF GENOMIC DNA TO IDENTIFY MUTATIONS IN THE GENE FOR BRUTONS TYROSINE KINASE [J].
CONLEY, ME ;
FITCHHILGENBERG, ME ;
CLEVELAND, JL ;
PAROLINI, O ;
ROHRER, J .
HUMAN MOLECULAR GENETICS, 1994, 3 (10) :1751-1756
[7]   X-LINKED AGAMMAGLOBULINEMIA - NEW APPROACHES TO OLD QUESTIONS BASED ON THE IDENTIFICATION OF THE DEFECTIVE GENE [J].
CONLEY, ME ;
PAROLINI, O ;
ROHRER, J ;
CAMPANA, D .
IMMUNOLOGICAL REVIEWS, 1994, 138 :5-21
[8]  
Cucca F, 1998, CLIN EXP IMMUNOL, V111, P76
[9]   Expression of Bruton's tyrosine kinase in B lymphoblastoid cell lines from X-linked agammaglobulinaemia patients [J].
DeWeers, M ;
Dingjan, GM ;
Brouns, GS ;
Kraakman, MEM ;
Mensink, RGJ ;
Lovering, RC ;
Schuurman, RKB ;
Borst, J ;
Hendriks, RW .
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 1997, 107 (02) :235-240
[10]   Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region [J].
Drabek, D ;
Raguz, S ;
DeWit, TPM ;
Dingjan, GM ;
Savelkoul, HFJ ;
Grosveld, F ;
Hendriks, RW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (02) :610-615