同型 HLA-DQB1*06:02 与 T 细胞受体 alpha 多态性结合导致嗜睡症发病--一例家族病例报告。

IF 2.3 4区医学 Q3 GENETICS & HEREDITY International Journal of Immunogenetics Pub Date : 2024-03-10 DOI:10.1111/iji.12666

Steven Jervis, Antony Payton, Arpana Verma, Rachel Thomasson, Kay Poulton

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引用次数: 0

摘要

嗜睡症是一种终身性神经系统疾病，具有公认的遗传风险因素。人类白细胞抗原-DQB1*06:02 仍是最强的遗传预决定因素；然而，编码 T 细胞受体 alpha 链基因的多态性也与此密切相关。本病例报告显示了这些遗传标记导致一名 17 岁女性嗜睡症发病的遗传途径。

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Homozygous HLA-DQB1*06:02 combined with T-cell receptor alpha polymorphism results in narcolepsy onset – A familial case report

Narcolepsy is a life-long neurological disorder with well-established genetic risk factors. Human leukocyte antigen-DQB1*06:02 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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来源期刊

International Journal of Immunogenetics 医学-免疫学

CiteScore

4.70

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are: -studies of blood groups and other surface antigens- cell interactions and immune response- receptors, antibodies, complement components and cytokines- polymorphism- evolution of the organisation, control and function of immune system components- anthropology and disease associations- the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies- All papers are seen by at least two independent referees and only papers of the highest quality are accepted.