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

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

doi:10.1111/iji.12666

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	187-191
Number of pages	5
Journal	International Journal of Immunogenetics
Volume	51
Issue number	3
Early online date	10 Mar 2024
DOIs	https://doi.org/10.1111/iji.12666
Publication status	Published - Jun 2024

Keywords

autoimmune
family studies
gene – polymorphism
HLA
immunogenetics

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10.1111/iji.12666Licence: CC BY

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abstract = "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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author = "Steven Jervis and Antony Payton and Arpana Verma and Rachel Thomasson and Kay Poulton",

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AU - Thomasson, Rachel

AU - Poulton, Kay

PY - 2024/6

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AB - 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.

KW - autoimmune

KW - family studies

KW - gene – polymorphism

KW - HLA

KW - immunogenetics

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

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