HLA-phenotype was determined in 59 juvenile patients of Russian nationality and in their 50 relatives by means of lymphocytotoxic test. There was a positive association with HLA-A1, B8 and DR3 and the negative one--with HLA-A2, A9, B5, B7, and DR7. The frequencies of HLA-A1, B8, DR3 were higher in boys than in girls with myasthenia. There were no significant changes of HLA frequencies in ocular form of the disease in comparison with the healthy group. The frequencies of HLA-B8 and DR3 were significantly higher in relatives of the patients with juvenile myasthenia than in control population.
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Hepatol Forum
September 2021
Paediatric Gastroenterology-Hepatology/Liver Transplantation Centre, Koc University, Istanbul, Turkey.
Autoimmune hepatitis (AIH) is a chronic progressive autoimmune liver disease characterized by hypergammaglobulinemia, interface hepatitis, a female preponderance, and the presence of autoantibodies in most patients. The presence of HLA-DR3/DR4 and functional impairment in regulatory T cells are associated with AIH. However, AIH is a multifactorial complex disease.
View Article and Find Full Text PDFMult Scler Relat Disord
July 2022
Multiple Sclerosis and Demyelinating Diseases Unit, A' Department of Neurology, Medical School, National and Kapodistrian University of Athens, Aeginition University Hospital, Vas. Sophias, 74, Athens 115 28, Greece; Research Immunogenetics Laboratory, A' Department of Neurology, Medical School, National and Kapodistrian University of Athens, Aeginition University Hospital, Athens, Greece. Electronic address:
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).
View Article and Find Full Text PDFNeurol Sci
August 2022
Peripheral Nervous System, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Background: Myasthenia gravis (MG) is a very heterogenic chronic autoimmune disease caused by the failure of neuromuscular transmission. The HLA gene complex has conventionally been recognized as its main genetic risk and phenotype modifying factor. Our aim was to investigate the prevalence of HLA class I and II alleles and to identify possible risk factors for sporadic MG in a Spanish cohort.
View Article and Find Full Text PDFHepatology
October 2021
Institute of Liver Studies, MowatLabs, Department of Inflammation Biology, School of Immunology & Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London, United Kingdom.
Background And Aims: Genetic predisposition to autoimmune hepatitis (AIH) in adults is associated with possession of human leukocyte antigen (HLA) class I (A*01, B*08) and class II (DRB1*03, -04, -07, or -13) alleles, depending on geographic region. Juvenile autoimmune liver disease (AILD) comprises AIH-1, AIH-2, and autoimmune sclerosing cholangitis (ASC), which are phenotypically different from their adult counterparts. We aimed to define the relationship between HLA profile and disease course, severity, and outcome in juvenile AILD.
View Article and Find Full Text PDFTransplant Cell Ther
May 2021
Department of Pathology and Laboratory Medicine, Ministry of National Guard Health Affairs, King Abdullah International Medical Research Center / King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:
Finding HLA-matched donors for patients in need of hematopoietic stem cell transplantation (HSCT) stands a better chance in their own ethnic group. This information led many nations to establish unrelated stem cell donor registries. We started our Saudi Stem Cell Donor registry (SSCDR) in 2011.
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