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

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Author

  • LD Notarangelo
  • MC Peitsch
  • TG Abrahamsen
  • C Bachelot
  • P Bordigoni
  • AJ Cant
  • H Chapel
  • M Clementi
  • S Deacock
  • G de Saint Basile
  • M Duse
  • T Espanol
  • A Etzioni
  • A Fasth
  • A Fischer
  • S Giliani
  • L Gomez
  • L Hammarstorm
  • A Jones
  • M Kanariou
  • C Kinnon
  • T Klemola
  • RA Kroczek
  • J Levy
  • N Matamoros
  • V Monafo
  • P Paolucci
  • I Reznick
  • O Sanal
  • CIE Smith
  • RA Thompson
  • P Tovo
  • A Villa
  • Mauno Vihinen
  • J Vossen
  • BJ Zegers
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Summary, in English

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.

Publishing year

1996

Language

English

Pages

511-516

Publication/Series

Immunology Today

Volume

17

Issue

11

Document type

Journal article

Publisher

Elsevier

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 0167-5699