CD40Lbase: A database of CD40L gene mutations causing X-linked hyper-IgM syndrome

被引：100

作者：

Notarangelo, LD

Peitsch, MC

Abrahamsen, TG

Bachelot, C

Bordigoni, P

Cant, AJ

Chapel, H

Clementi, M

Deacock, S

de Saint Basile, G

Duse, M

Espanol, T

Etzioni, A

Fasth, A

Fischer, A

Giliani, S

Gomez, L

Hammarstorm, L

Jones, A

Kanariou, M

Kinnon, C

Klemola, T

Kroczek, RA

Levy, J

Matamoros, N

Monafo, V

Paolucci, P

Reznick, I

Sanal, O

Smith, CIE

Thompson, RA

Tovo, P

Villa, A

Vihinen, M

Vossen, J

Zegers, BJ

机构：

[1] GLAXO WELLCOME RES & DEV LTD, GENEVA BIOMED RES INST, PLAN LES OUATES, SWITZERLAND

[2] UNIV OSLO, RIKSHOSP, N-0027 OSLO, NORWAY

[3] HOP NORD, GRENOBLE, FRANCE

[4] UNIV NANCY 1, F-54013 NANCY, FRANCE

[5] NEWCASTLE GEN HOSP, NEWCASTLE UPON TYNE NE4 6BE, TYNE & WEAR, ENGLAND

[6] JOHN RADCLIFFE HOSP, DEPT CLIN IMMUNOL, OXFORD OX3 9DU, ENGLAND

[7] UNIV PADUA, DEPT PEDIAT, PADUA, ITALY

[8] ROYAL FREE HOSP, MRC, IMMUNODEFICIENCY CLIN, LONDON NW3 2QG, ENGLAND

[9] HOP NECKER ENFANTS MALAD, INSERM, U132, F-75743 PARIS, FRANCE

[10] IMMUNOL UNIT, BARCELONA, SPAIN

[11] UNIV HAIFA, DEPT PEDIAT, IL-31999 HAIFA, ISRAEL

[12] EAST HOSP, DEPT PEDIAT, GOTHENBURG, SWEDEN

[13] INST IMMUNOL, MOSCOW, RUSSIA

[14] KAROLINSKA INST, DEPT BIOSCI, HUDDINGE, SWEDEN

[15] INST CHILD HLTH, LONDON, ENGLAND

[16] DEPT IMMUNOL & HISTOCOMPATIBIL, ATHENS, GREECE

[17] UNIV HELSINKI, CHILDRENS HOSP, HELSINKI, FINLAND

[18] ROBERT KOCH INST, D-1000 BERLIN, GERMANY

[19] SOROKA MED CTR, IL-84101 BEER SHEVA, ISRAEL

[20] SON DURETA HOSP, SERV IMMUNOL, PALMA DE MALLORCA, SPAIN

[21] UNIV PAVIA, DEPT PEDIAT, I-27100 PAVIA, ITALY

[22] IRCCS, DIV PEDIAT, SAN GIOVANNI ROTONDO, ITALY

[23] RES INST HEMATOL, MOSCOW, RUSSIA

[24] ANKARA UNIV, DEPT PEDIAT, TR-06100 ANKARA, TURKEY

[25] BIRMINGHAM HEARTLANDS HOSP, DEPT IMMUNOL, BIRMINGHAM, W MIDLANDS, ENGLAND

[26] UNIV TURIN, DEPT PEDIAT, TURIN, ITALY

[27] CNR, IST TECNOL BIOMED AVANZATE, I-20131 MILAN, ITALY

[28] UNIV HELSINKI, DEPT BIOSCI, FIN-00014 HELSINKI, FINLAND

[29] LEIDEN UNIV, DEPT PEDIAT, LEIDEN, NETHERLANDS

[30] WILHELMINA CHILDRENS HOSP, UTRECHT, NETHERLANDS

来源：

IMMUNOLOGY TODAY | 1996年 / 17卷 / 11期

关键词：

D O I：

10.1016/0167-5699(96)30059-5

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 hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.

引用

页码：511 / 516

页数：6

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