通过TREC/KREC筛查在X连锁重症联合免疫缺陷病中鉴定出一种新的IL-2RG基因突变：病例报告
A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.
作者信息
Nourizadeh Maryam, Borte Stephan, Fazlollahi Mohammad Reza, Hammarström Lennart, Pourpak Zahra
机构信息
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden AND Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Municipal Hospital St. Georg, Leipzig, Germany.
出版信息
Iran J Allergy Asthma Immunol. 2015 Aug;14(4):457-61.
Severe combined immunodeficiency (SCID) represents a rare group of primary immunodeficiency disorders (PIDs), with known or unknown genetic alterations. Here, we report a new interleukin 2 receptor, gamma chain (IL-2RG) mutation in an Iranian SCID newborn. The patient was a 6-day old boy with a family history of PID. The child was screened using a molecular-based analysis for the assessment of T cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). Moreover, a complete immunological evaluation and gene sequencing was performed. Results showed undetectable TREC but a high level of KREC copy numbers. Flow cytometric data indicated low numbers of T and NK cells, but elevated number of B cells. A novel substitution in IL2RG: c.675 C>A, leading to p.225 Ser>Arg was found. Based on the functional analysis, the mutation is predicted to be damaging. The patient was diagnosed as a T B+ NK X-linked SCID.
重症联合免疫缺陷（SCID）是一组罕见的原发性免疫缺陷疾病（PID），存在已知或未知的基因改变。在此，我们报告一名伊朗SCID新生儿中发现的一种新的白细胞介素2受体γ链（IL-2RG）突变。该患者为一名6天大的男婴，有PID家族史。通过基于分子的分析对该儿童进行筛查，以评估T细胞受体切除环（TREC）和κ-缺失重组切除环（KREC）。此外，还进行了全面的免疫学评估和基因测序。结果显示未检测到TREC，但KREC拷贝数较高。流式细胞术数据表明T细胞和自然杀伤细胞数量低，但B细胞数量升高。在IL2RG中发现了一个新的替代突变：c.675 C>A，导致p.225 Ser>Arg。基于功能分析，该突变预计具有损害性。该患者被诊断为T B+ NK X连锁SCID。
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