The Immunogenetics of the Autoimmune Myasthenias


The autoimmune myasthenias are prototypes of an emerging group of autoantibody‐mediated neurological diseases, mostly with very well defined target molecules, whether receptors or ion channels (or both). At the neuromuscular junction, these include presynaptic calcium channels in the Lambert–Eaton myasthenic syndrome (LEMS) and postsynaptic acetyl‐choline receptors (AChR) in myasthenia gravis (MG). These disorders are particularly informative because of the distinct aetiological factors in the several patient subgroups, including characteristic associations with small cell lung cancers in the LEMS or with thymomas in MG; also – but mainly in other subgroups – with certain immuno‐genetic variants, both in the HLA region and at other immuno‐regulatory loci. Here, I briefly summarise current knowledge in these areas and discuss its implications.

Keywords: myasthenia gravis; Lambert–Eaton myasthenic syndrome; HLA and disease; immunogenetics; humoral autoimmunity; autoantibody; thymoma; thymic hyperplasia; germinal centre


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Willcox, Nick(Oct 2014) The Immunogenetics of the Autoimmune Myasthenias. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0024896]