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TCRα 基因重排偏斜，但 TCRβ 基因未偏斜，与致病性 TRAC 变体相关的淋巴瘤。

Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant.

机构信息

Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education & Research, Sector 12, Chandigarh, 160012, India.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5-3950, 10 Centre Drive, MSC 1456, Bethesda, MD, 20892, USA.

出版信息

J Clin Immunol. 2021 Aug;41(6):1395-1399. doi: 10.1007/s10875-021-01047-x. Epub 2021 Apr 28.

DOI:10.1007/s10875-021-01047-x
PMID:33909184
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8316983/
Abstract

We report a non-consanguineous family from North-west India in which 3 siblings succumbed to a rare variant of combined immunodeficiency. All three had similar clinical and immunological profiles. However, the youngest child also developed Non-Hodgkin lymphoma in infancy. Genetic analysis revealed a previously reported variant in the T cell receptor alpha constant () gene.

摘要

我们报道了一个来自印度西北部的非近亲家族，其中 3 名兄弟姐妹均死于一种罕见的联合免疫缺陷症变异型。这 3 人具有相似的临床和免疫表型。然而，最小的孩子在婴儿期还患有非霍奇金淋巴瘤。基因分析显示 T 细胞受体α恒定（）基因存在先前报道的变异。

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Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.人类先天性免疫缺陷：国际免疫学联盟专家委员会 2019 年分类更新。
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Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.T 细胞受体α 亚单位恒定基因（TRAC）突变导致一种人类免疫缺陷疾病，其特征是缺乏 TCRαβ+T 细胞。
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