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Mediterr J Rheumatol 2022;33(1):63-7
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Genetics and Autoimmunity: Two Sides of the Same Coin or an Epiphenomenon?
Rudrarpan Chatterjee1, Pankti Mehta1, Vikas Agarwal1, Latika Gupta1,2,3,4
Authors Information

1Department of Clinical Immunology and Rheumatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India

2Department of Rheumatology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, United Kingdom

3City Hospital, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, United Kingdom

4Division of Musculoskeletal and Dermatological Sciences, Centre for Musculoskeletal Research, School of Biological Sciences, The University of Manchester, Manchester, United Kingdom

R Chatterjee, L Gupta, V Agarwal

Keywords: inflammatory myopathy, hereditary myopathy, whole genome sequencing, myositis-specific autoantibodies, immunosuppressants, juvenile dermatomyositis, paediatric rheumatology
References
  1. Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J et al. Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients. Orphanet J Rare Dis 2015;10:61.
  2. Suzuki S, Hayashi YK, Kuwana M, Tsuburaya R, Suzuki N, Nishino I. Myopathy associated with antibodies to signal recognition particle: disease progression and neurological outcome. Arch Neurol 2012;69(6):728-32.
  3. Dimitri D, Andre C, Roucoules J, Hosseini H, Humbel RL, Authier FJ. Myopathy associated with anti-signal recognition peptide antibodies: clinical heterogeneity contrasts with stereotyped histopathology. Muscle Nerve 2007;35(3):389-95.
  4. Valiyil R, Casciola-Rosen L, Hong G, Mammen A, Christopher-Stine L. Rituximab therapy for myopathy associated with anti-signal recognition particle antibodies: a case series. Arthritis Care Res 2010;62(9):1328-34.
  5. Benveniste O, Drouot L, Jouen F, Charuel JL, Bloch-Queyrat C, Behin A et al. Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy. Arthritis Rheum 2011;63(7):1961-71.
  6. Vattemi G, Mirabella M, Guglielmi V, Lucchini M, Tomelleri G, Ghirardello A, et al. Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis. Auto-Immun Highlights 2014;5(3):77-85.
  7. Mammen AL, Casciola-Rosen L, Christopher-Stine L, Lloyd TE, Wagner KR. Myositis-specific autoantibodies are specific for myositis compared to genetic muscle disease. Neurol Neuroimmunol Neuroinflammation 2015;2(6):e172.
  8. Mammen AL, Casciola-Rosen LA, Hall JC, Christopher-Stine L, Corse AM, Rosen A. Expression of the dermatomyositis autoantigen Mi-2 in regenerating muscle. Arthritis Rheum 2009;60(12):3784-93.
  9. Mohassel P, Rosen P, Casciola-Rosen L, Pak K, Mammen AL. Expression of the Dermatomyositis Autoantigen TIF1γ in Regenerating Muscle. Arthritis Rheum 2015;67(1):266-72.
  10. Casciola-Rosen L, Nagaraju K, Plotz P, Wang K, Levine S, Gabrielson E, et al. Enhanced autoantigen expression in regenerating muscle cells in idiopathic inflammatory myopathy. J Exp Med. 2005;201(4):591.
  11. Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, et al. Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. Neurol Neuroimmunol Neuroinflammation 2018;6(1):e523.
  12. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998;18(4):365-8.
  13. McNally EM, de Sá Moreira, E, Duggan DJ, Bönnemann CG, Lisanti MP, Lidov HG, et al. Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998;7(5):871-7.
  14. de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M. Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet 2001;99(4):303-7.