Literature DB >> 8961627

CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

L D Notarangelo, M C Peitsch, T G Abrahamsen, C Bachelot, P Bordigoni, A J 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, R A Kroczek, J Levy, N Matamoros, V Monafo, P Paolucci, I Reznick, O Sanal, C I Smith, R A Thompson, P Tovo, A Villa, M Vihinen, J Vossen, B J Zegers.   

Abstract

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.

Entities:  

Mesh:

Substances:

Year:  1996        PMID: 8961627     DOI: 10.1016/0167-5699(96)30059-5

Source DB:  PubMed          Journal:  Immunol Today        ISSN: 0167-5699


  23 in total

Review 1.  CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes.

Authors:  A Bhushan; L R Covey
Journal:  Immunol Res       Date:  2001       Impact factor: 2.829

Review 2.  X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase.

Authors:  C I Smith; C M Bäckesjö; A Berglöf; L J Brandén; T Islam; P T Mattsson; A J Mohamed; S Müller; B Nore; M Vihinen
Journal:  Springer Semin Immunopathol       Date:  1998

Review 3.  The hyper-IgM (HIM) syndrome.

Authors:  N Ramesh; M Seki; L D Notarangelo; R S Geha
Journal:  Springer Semin Immunopathol       Date:  1998

4.  BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Authors:  M Vihinen; B H Belohradsky; R N Haire; E Holinski-Feder; S P Kwan; I Lappalainen; H Lehväslaiho; T Lester; A Meindl; H D Ochs; J Ollila; I Vorechovsky; M Weiss; C I Smith
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

5.  Primary immunodeficiency diseases in Norway.

Authors:  A Stray-Pedersen; T G Abrahamsen; S S Frøland
Journal:  J Clin Immunol       Date:  2000-11       Impact factor: 8.317

6.  Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.

Authors:  Erna Van Hoeyveld; Ping-Xia Zhang; Kris De Boeck; Ramsay Fuleihan; Xavier Bossuyt
Journal:  Immunology       Date:  2007-01-17       Impact factor: 7.397

7.  HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.

Authors:  P A Apoil; E Kuhlein; A Robert; H Rubie; A Blancher
Journal:  Immunogenetics       Date:  2006-12-05       Impact factor: 2.846

8.  X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy.

Authors:  Nandini Nagaraj; Chukwuma Egwim; Douglas G Adler
Journal:  Dig Dis Sci       Date:  2007-04-12       Impact factor: 3.199

9.  Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Authors:  K C Gilmour; D Walshe; S Heath; G Monaghan; S Loughlin; T Lester; G Norbury; C M Cale
Journal:  Mol Pathol       Date:  2003-10

10.  Central nervous system toxoplasmosis with an increased proportion of circulating gamma delta T cells in a patient with hyper-IgM syndrome.

Authors:  L E Leiva; J Junprasert; D Hollenbaugh; R U Sorensen
Journal:  J Clin Immunol       Date:  1998-07       Impact factor: 8.317

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.