X-linked agammaglobulinemia

被引：8

作者：

Gaspar, HB ^{[1
]}

Kinnon, C ^{[1
]}

机构：

[1] UCL, Inst Child Hlth, Mol Immunol Unit, London WC1N 1EH, England

来源：

IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA | 2001年 / 21卷 / 01期

关键词：

D O I：

10.1016/S0889-8561(05)70191-0

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

X-linked agammaglobulinemia (XLA) is the prototypic humoral immunodeficiency arising from a defect in B-cell maturation and the consequent failure of immunoglobulin production. The defective gene in XLA has now been identified and termed BTK. In this article, the clinical manifestations of XLA and the role of Btk protein in intracellular signaling and its interactions are discussed. This discussion leads to an increased understanding of the molecular mechanisms in the development of B cells and has allowed the authors to develop more accurate methods for diagnosis of humoral abnormalities.

引用

页码：23 / +

页数：23

共 90 条

[1] COMMON VARIABLE HYPOGAMMAGLOBULINEMIA, RECURRENT PNEUMOCYSTIS-CARINII PNEUMONIA ON INTRAVENOUS GAMMA-GLOBULIN THERAPY, AND NATURAL-KILLER DEFICIENCY [J].

BONAGURA, VR ;

CUNNINGHAMRUNDLES, S ;

EDWARDS, BL ;

ILOWITE, NT ;

WEDGWOOD, JF ;

VALACER, DJ .

CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1989, 51 (02) :216-231

[2]

BRUTON OC, 1952, PEDIATRICS, V9, P722

[3]

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

[4]

CAMPANA D, 1990, J IMMUNOL, V145, P1675

[5] Diagnostic criteria for primary immunodeficiencies [J].

Conley, ME ;

Notarangelo, LD ;

Etzioni, A .

CLINICAL IMMUNOLOGY, 1999, 93 (03) :190-197

[6] EXPRESSION OF THE GENE DEFECT IN X-LINKED AGAMMAGLOBULINEMIA [J].

CONLEY, ME ;

BROWN, P ;

PICKARD, AR ;

BUCKLEY, RH ;

MILLER, DS ;

RASKIND, WH ;

SINGER, JW ;

FIALKOW, PJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1986, 315 (09) :564-567

[7] 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

[8]

CONLEY ME, 1985, J IMMUNOL, V134, P3070

[9] THE WHEN AND HOW OF SRC REGULATION [J].

COOPER, JA ;

HOWELL, B .

CELL, 1993, 73 (06) :1051-1054

[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

← 1 2 3 4 5 6 7 8 9 →