Journal
MULTIPLE SCLEROSIS AND RELATED DISORDERS
Volume 63, Issue -, Pages -Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.msard.2022.103858
Keywords
Neuromyelitis optica; Myasthenia gravis; Human leucocyte antigens; Next generation sequencing; T cell tolerance; Thymectomy
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This study reports two cases of thymectomized patients with acetylcholine receptor antibody-positive myasthenia gravis who eventually developed AQP4-NMO. Genetic sequencing analysis suggests the involvement of specific HLA alleles in rare forms of combined human peripheral and central nervous system autoimmunity.
The exact immunopathogenesis, genetic mechanisms and triggering factors underlying myasthenia gravis (MG) and neuromyelitis optica (NMO) remain unknown and the coexistence may underline an aetiopathogenetic link be- tween these two diseases. We report the cases of two thymectomized patients with acetylcholine receptor (AChR) antibody (Ab)-positive MG who eventually developed AQP4-NMO. Next-Generation Sequencing (NGS) analysis showed that patient-1 had two HLA alleles previously associated with MG, mainly HLA-A*01:01:01 and HLA-DRB1*03:01, present in a haplotype in Caucasian MG patients (HLA-A1-B8-DR3-DQ2). Patient-2, expressed HLA-C*07:01:01, a well characterized MG risk factor and HLA-DQB1*05:02:01, previously described both in MG and NMO patients. Finally, we observed two common alleles in patient 1 and 2, HLA-DQA1*05:01:01 and HLA-DPB1*04:02:01. We believe that this study provides clinical evidence of the role of specific HLA alleles in rare forms of combined human peripheral and CNS autoimmunity, a fact that enhances the aim towards tailor-made therapeutic decision making.
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