Paraneoplastic neuromuscular disorders

Sharp, Lydia; Vernino, Steven

doi:10.1002/mus.23502

Cited by 28 publications

(9 citation statements)

References 73 publications

(94 reference statements)

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“…In contrast to anti-AchR Ab, which are mainly of IgG1 isotype, anti-Musk Ab are IgG4, so they cannot fix complement nor bind Ig Fc domain receptors [38]. Although MG is not usually included in most PNS studies, a malignant thymoma is diagnosed in nearly 10-15% of patients, and in such cases it is almost always generalized and associated with anti-AchR Ab [39]. Furthermore, non-thymomatous MG is divided into early-onset MG (EOMG) and late-onset MG (LOMG).…”

Section: Myasthenia Gravismentioning

confidence: 99%

Associations between HLA and autoimmune neurological diseases with autoantibodies

Muñiz‐Castrillo

Vogrig

Honnorat

2020

Autoimmun Highlights

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Recently, several autoimmune neurological diseases have been defined by the presence of autoantibodies against different antigens of the nervous system. These autoantibodies have been demonstrated to be specific and useful biomarkers, and most of them are also pathogenic. These aspects have increased the value of autoantibodies in neurological practice, as they enable to establish more accurate diagnosis and to better understand the underlying mechanisms of the autoimmune neurological diseases when they are compared to those lacking them. Nevertheless, the exact mechanisms leading to the autoimmune response are still obscure. Genetic predisposition is likely to play a role in autoimmunity, HLA being the most reported genetic factor. Herein, we review the current knowledge about associations between HLA and autoimmune neurological diseases with autoantibodies. We report the main alleles and haplotypes, and discuss the clinical and pathogenic implications of these findings.

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Section: Myasthenia Gravismentioning

confidence: 99%

Associations between HLA and autoimmune neurological diseases with autoantibodies

Muñiz‐Castrillo

Vogrig

Honnorat

2020

Autoimmun Highlights

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“…Paraneoplastic autoimmunity [164], [183], [184] is a related phenomenon in which an immune response to a tumor expressing mutant antigens also affects normal tissues expressing wild-type proteins.…”

Section: Discussionmentioning

confidence: 99%

Coherent Somatic Mutation in Autoimmune Disease

Ross

2014

PLoS ONE

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BackgroundMany aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mutable, both somatically and in the germ-line, and somatic STR mutations are observed under inflammation.ResultsProtein-coding genes spanning STRs having markers of mutability, including germ-line variability, high total length, repeat count and/or repeat similarity, are evaluated in the context of autoimmunity. For the initiation of autoimmune disease, antigens whose autoantibodies are the first observed in a disease, termed primary autoantigens, are informative. Three primary autoantigens, thyroid peroxidase (TPO), phogrin (PTPRN2) and filaggrin (FLG), include STRs that are among the eleven longest STRs spanned by protein-coding genes. This association of primary autoantigens with long STR sequence is highly significant (). Long STRs occur within twenty genes that are associated with sixteen common autoimmune diseases and atherosclerosis. The repeat within the TTC34 gene is an outlier in terms of length and a link with systemic lupus erythematosus is proposed.ConclusionsThe results support the hypothesis that many autoimmune diseases are triggered by immune responses to proteins whose DNA sequence mutates somatically in a coherent, consistent fashion. Other autoimmune diseases may be caused by coherent somatic mutations in immune cells. The coherent somatic mutation hypothesis has the potential to be a comprehensive explanation for the initiation of many autoimmune diseases.

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“…27 About 15% of patients with MG have a paraneoplastic disorder usually associated with thymoma. First, the antibodies in these disorders are directed against ion channels at the neuromuscular junction and not only are a specific diagnostic marker but also directly cause the disease.…”

Section: Myasthenia Gravis and Lambert-eaton Syndromementioning

confidence: 99%