@article{3220324,
    title = "HLA-genotyping by next-generation-sequencing reveals shared and unique HLA alleles in two patients with coexisting neuromyelitis optica spectrum disorder and thymectomized myasthenia gravis: Immunological implications for mutual aetiopathogenesis?",
    author = "Vakrakou, A. and Chatzistamatiou, T. and Koros, C. and Karathanasis, D. and Tentolouris-Piperas, V. and Tzanetakos, D. and Stathopoulos, P. and Koutsis, G. and Spyropoulou-Vlachou, M. and Evangelopoulos, M.-E. and Stefanis, L. and Stavropoulos-Giokas, C. and Anagnostouli, M.",
    journal = "Multiple Sclerosis and Related Disorders",
    year = "2022",
    volume = "63",
    publisher = "Elsevier B.V.",
    issn = "2211-0348",
    doi = "10.1016/j.msard.2022.103858",
    abstract = "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. © 2022"
}