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<p>Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα (pTCRα) chain heterodimers, giving rise to a diverse T cell repertoire. Genetic aberrations in key molecules involved in T cell development lead to profound T cell immunodeficiency. Definitive genetic diagnosis guides treatment choices and counseling. In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in <i>PTCRA</i>, encoding pTCRα, was identified. To date, use of WGS remains restricted and for many geographical regions, is clinically unavailable.</p>

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Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年1月13日

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  • Daniele Merico,
  • Nigel Sharfe,
  • Harjit Dadi,
  • Bhooma Thiruvahindrapuram,
  • Jill de Rijke,
  • Zakia Dahi,
  • Mehdi Zarrei,
  • Abdulrahman Al Ghamdi,
  • Azhar Al Shaqaq,
  • Linda Vong,
  • Stephen W. Scherer,
  • Chaim M. Roifman

摘要

Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα (pTCRα) chain heterodimers, giving rise to a diverse T cell repertoire. Genetic aberrations in key molecules involved in T cell development lead to profound T cell immunodeficiency. Definitive genetic diagnosis guides treatment choices and counseling. In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCRα, was identified. To date, use of WGS remains restricted and for many geographical regions, is clinically unavailable.