Myopathy in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Muscle & Nerve
Mitsuru WatanabeJun-Ichi Kira

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by monogenic mutations in the autoimmune regulator (AIRE) gene. No attention has been paid to muscle manifestations in this disorder. We aimed to uncover whether progressive myopathy is a component of this disorder. A case description and literature search for APECED cases presenting with myopathy and analysis of AIRE gene expression in biopsied muscles from 4 healthy volunteers and the patient by reverse transcriptase polymerase chain reaction. A 52-year-old woman with APECED caused by AIRE gene mutations developed progressive myopathy involving proximal limb and paraspinal muscles. Muscle biopsy specimens showed myopathic changes without inflammatory cell infiltrate. We detected AIRE gene expression in all muscle tissues examined. An extensive literature search uncovered 5 cases of APECED with myopathy, all of whom had similar features. Progressive myopathy involvement could be a hitherto unknown manifestation of APECED.

References

Dec 17, 1997·Nature Genetics·K NagamineN Shimizu
Aug 14, 2002·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Kazuhiko KogawaNobuyoshi Shimizu
Jul 18, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·M C Dalakas

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Citations

Nov 8, 2012·International Journal of Endocrinology·Donatella CapalboMariacarolina Salerno
Sep 16, 2015·The Journal of Allergy and Clinical Immunology·Francisco A BonillaJames W Verbsky
Sep 7, 2016·Frontiers in Pediatrics·Lucia De MartinoMariacarolina Salerno
Oct 20, 2018·The Journal of Clinical Endocrinology and Metabolism·Antonella MeloniCristina Cocco

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