TY - JOUR
TI - 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?
AU - Vakrakou, A.
AU - Chatzistamatiou, T.
AU - Koros, C.
AU - Karathanasis, D.
AU - Tentolouris-Piperas, V.
AU - Tzanetakos, D.
AU - Stathopoulos, P.
AU - Koutsis, G.
AU - Spyropoulou-Vlachou, M.
AU - Evangelopoulos, M.-E.
AU - Stefanis, L.
AU - Stavropoulos-Giokas, C.
AU - Anagnostouli, M.
JO - Multiple Sclerosis and Related Disorders
PY - 2022
VL - 63
TODO - null
SP - null
PB - Elsevier B.V.
SN - 2211-0348
TODO - 10.1016/j.msard.2022.103858
TODO - null
TODO - 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
ER -