Τίτλος:
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?
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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
Συγγραφείς:
Vakrakou, A.
Chatzistamatiou, T.
Koros, C.
Karathanasis, D.
Tentolouris-Piperas, V.
Tzanetakos, D.
Stathopoulos, P.
Koutsis, G.
Spyropoulou-Vlachou, M.
Evangelopoulos, M.-E.
Stefanis, L.
Stavropoulos-Giokas, C.
Anagnostouli, M.
Περιοδικό:
Multiple Sclerosis and Related Disorders
DOI:
10.1016/j.msard.2022.103858
