Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review.

IF 1.5 4区 医学 Q4 IMMUNOLOGY
Central European Journal of Immunology Pub Date : 2024-01-01 Epub Date: 2024-09-20 DOI:10.5114/ceji.2024.142340
Fang Cao, Yingyu Shi, Fang Deng, Yu Yan
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引用次数: 0

Abstract

This study presents a detailed clinical case of a 10-year-old boy with a history of prolonged cough, fever, and delayed diagnosis of bronchiectasis. Review of the case revealed that the child has had recurrent bronchitis, otitis media, skin allergies, and viral warts since early childhood, indicating persistent immune system abnormalities. Imaging studies, including pulmonary and sinus CT scans, show significant bronchiectasis accompanied by infections and sinusitis. Immunological assessment revealed abnormalities in immunoglobulin levels and T-cell distribution, suggesting a potential immune deficiency. Whole exome sequencing did not identify any genetic variants highly associated with and definitively pathogenic for bronchiectasis but detected a compound heterozygous missense mutation c.420A>T (p.R140S) in the IL2RG gene, linked to primary combined immunodeficiency (CID), a clinical phenotype rarely reported in China due to this gene mutation. This case report not only enhances our understanding of CID but also provides a new addition to the genetic landscape of CID both domestically and internationally, aiding in earlier diagnosis and treatment of such diseases in clinical practice. During the 18-month follow-up period, the child was unable to participate in physical activities, and experienced recurrent rhinitis, sinusitis, and warts. The child's current weight and height are 30 kg and 140 cm, respectively.

新型IL2RG基因突变导致原发性联合免疫缺陷病1例报告并文献复习。
本研究提出一个详细的临床病例,一个10岁的男孩有长期咳嗽,发烧和延迟诊断支气管扩张的历史。对该病例的复查显示,该儿童自童年早期就有反复发作的支气管炎、中耳炎、皮肤过敏和病毒性疣,表明免疫系统持续异常。影像学检查,包括肺和鼻窦CT扫描,显示明显的支气管扩张伴感染和鼻窦炎。免疫学评估显示免疫球蛋白水平和t细胞分布异常,提示潜在的免疫缺陷。全外显子组测序未发现任何与支气管扩张高度相关和明确致病的遗传变异,但在IL2RG基因中检测到一种复合杂合错感突变c.420A >t (p.R140S),与原发性联合免疫缺陷(CID)有关,由于这种基因突变,这种临床表型在中国很少报道。本病例报告不仅提高了我们对CID的认识,而且为国内外CID的遗传景观提供了新的补充,有助于在临床实践中早期诊断和治疗此类疾病。在18个月的随访期间,该儿童无法参加体育活动,并反复出现鼻炎、鼻窦炎和疣。孩子目前的体重和身高分别为30公斤和140厘米。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.00
自引率
0.00%
发文量
17
审稿时长
6-12 weeks
期刊介绍: Central European Journal of Immunology is a English-language quarterly aimed mainly at immunologists.
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