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Homozygous HLA-DQB1*06:02 combined with T-cell receptor alpha polymorphism results in narcolepsy onset - A familial case report.
Jervis, Steven; Payton, Antony; Verma, Arpana; Thomasson, Rachel; Poulton, Kay.
Afiliação
  • Jervis S; Transplantation Laboratory, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester, UK.
  • Payton A; Faculty of Biology, Medicine and Health, Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, University of Manchester, Manchester, UK.
  • Verma A; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Thomasson R; Faculty of Biology, Medicine and Health, Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, University of Manchester, Manchester, UK.
  • Poulton K; Manchester Centre for Clinical Neurosciences, Department of Neurology, Salford Royal Hospital, Salford, UK.
Int J Immunogenet ; 51(3): 187-191, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38462594
ABSTRACT
Narcolepsy is a life-long neurological disorder with well-established genetic risk factors. Human leukocyte antigen-DQB1*0602 remains the strongest genetic predeterminant; however, polymorphisms in genes encoding the T-cell receptor alpha chain are also strongly linked. This case report shows the inheritance pathway of these genetic markers contributing to narcolepsy onset in a 17-year-old female.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Cadeias beta de HLA-DQ / Homozigoto / Narcolepsia Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Cadeias beta de HLA-DQ / Homozigoto / Narcolepsia Idioma: En Ano de publicação: 2024 Tipo de documento: Article