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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A CTLA4high genotype is associated with myasthenia gravis in thymoma patients.

Myasthenia gravis (MG) in thymoma patients depends critically on intratumorous generation and export of mature autoreactive CD4+ T cells. Why non-MG thymomas fail to produce CD4+ T cells is unknown. We studied three single-nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4(CTLA4) gene in thymoma patients, nonthymoma early-onset MG patients, and control subjects. Surprisingly, the CTLA4high genotype +49A/A, which is protective against several autoimmune diseases, exerted a prominent predisposing effect to paraneoplastic MG in thymoma patients. The unusual disease association with a CTLA4high genotype implies a unique pathogenesis of paraneoplastic MG, with high CTLA4 levels possibly supporting the nontolerogenic selection of CD4+ T cells in MG-associated thymomas.[1]


  1. A CTLA4high genotype is associated with myasthenia gravis in thymoma patients. Chuang, W.Y., Ströbel, P., Gold, R., Nix, W., Schalke, B., Kiefer, R., Opitz, A., Klinker, E., Müller-Hermelink, H.K., Marx, A. Ann. Neurol. (2005) [Pubmed]
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