The gene involved in X-linked agammaglobulinaemia is member of the src family of protein-tyrosine kinases (Reprinted from Nature, vol 391, pg 226, 1993)

被引：0

作者：

Vetrie, David ^{[1
,2
]}

Vorechovsky, Igor ^{[3
]}

Sideras, Paschalis ^{[3
,4
]}

Holland, Jill ^{[1
,2
]}

Davies, Angela ^{[1
,2
]}

Flinter, Frances ^{[1
,2
]}

Hammarstrom, Lennart ^{[3
]}

Kinnon, Christine ^{[5
]}

Levinsky, Roland ^{[5
]}

Bobrow, Martin ^{[1
,2
]}

Smith, C. I. Edvard ^{[3
]}

Bentley, David R. ^{[1
,2
]}

机构：

[1] UMDS, Guys Hosp, Div Med & Mol Genet, London SE1 9RT, England

[2] UMDS, St Thomas Hosp, Div Med & Mol Genet, London SE1 9RT, England

[3] Karolinska Inst, Novum, Ctr Biotechnol, S-14157 Huddinge, Sweden

[4] Umea Univ, Appl Cell & Mol Biol Unit, S-90187 Umea, Sweden

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

来源：

JOURNAL OF IMMUNOLOGY | 2012年 / 188卷 / 07期

关键词：

TRANSCRIBED SEQUENCES; CLOSE LINKAGE; SH3; DOMAINS; EXPRESSION; SELECTION; FEATURES; IDENTIFICATION; PP60V-SRC; DXS178; YEAST;

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.

引用

页码：2948 / 2955

页数：8

共 4 条

[1] THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES (VOL 361, PG 226, 1993)
VETRIE, D
VORECHOVSKY, I
SIDERAS, P
HOLLAND, J
DAVIES, A
FLINTER, F
HAMMARSTROM, L
KINNON, C
LEVINSKY, R
BOBROW, M
SMITH, CIE
BENTLEY, DR
NATURE, 1993, 364 (6435) : 362 - 362
[2] THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES
VETRIE, D
VORECHOVSKY, I
SIDERAS, P
HOLLAND, J
DAVIES, A
FLINTER, F
HAMMARSTROM, L
KINNON, C
LEVINSKY, R
BOBROW, M
SMITH, CIE
BENTLEY, DR
NATURE, 1993, 361 (6409) : 226 - 233
[3] Deficient Expression of a B Cell Cytoplasmic Tyrosine Kinase in Human X-Linked Agammaglobulinemia (Reprinted from Cell, vol 72, pg 279, 1993)
Tsukada, Satoshi
Saffran, Douglas C.
Rawlings, David J.
Parolini, Ornella
Allen, R. Cutler
Klisak, Ivana
Sparkes, Robert S.
Kubagawa, Hiromi
Mohandas, Thuluvancheri
Quan, Shirley
Belmont, John W.
Cooper, Max D.
Conley, Mary Ellen
Witte, Owen N.
JOURNAL OF IMMUNOLOGY, 2012, 188 (07): : 2936 - 2947
[4] Tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function (vol 131, pg 115, 2003)
Gagliardi, MC
Finocchi, A
Orlandi, P
Cursi, L
Cancrini, C
Moschese, V
Miyawaki, T
Bruton, RP
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2003, 133 (02): : 297 - 298

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