[1]朱 童a,郭泽淇,王 琪,等.IL-2RG 基因c.675 C>A 突变引起X- 连锁重症联合免疫缺陷病患儿的基因检测及实验室与临床结果分析[J].现代检验医学杂志,2024,39(03):103-108.[doi:10.3969/j.issn.1671-7414.2024.03.017]
　ZHU Tonga,GUO Zeqi,WANG Qi,et al.Genetic Detection, Laboratory and Clinical Analysis of X-linked Severe Combined Immunodeficiency Caused by the c.675 C>A Mutation of IL-2RG Gene in Children[J].Journal of Modern Laboratory Medicine,2024,39(03):103-108.[doi:10.3969/j.issn.1671-7414.2024.03.017]
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IL-2RG 基因c.675 C>A 突变引起X- 连锁重症联合免疫缺陷病患儿的基因检测及实验室与临床结果分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第39卷
期数:
2024年03期
页码:
103-108
栏目:
论著
出版日期:
2024-05-15

文章信息/Info

Title:
Genetic Detection, Laboratory and Clinical Analysis of X-linked Severe Combined Immunodeficiency Caused by the c.675 C>A Mutation of IL-2RG Gene in Children
文章编号:
1671-7414（2024）03-103-06
作者:
朱 童1a; 郭泽淇2; 王 琪2; 武万良1b; 谢 云1a; 孟改利1a
（1. 西北妇女儿童医院 a. 检验科；b. 血液内科，西安 710061；2. 西安交通大学第二附属医院检验科，西安 710004）
Author(s):
ZHU Tong1a;  GUO Zeqi2;  WANG Qi2;  WU Wanliang1b;  XIE Yun1a;  MENG Gaili1a
（1a.Department of Clinical Laboratory;1b.Department of Pediatric Hematology, Northwest Women’s and Children’s Hospital, Xi’an 710061; 2.Department of Clinical Laboratory,the Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710004,China)
关键词:
白细胞介素-2 受体共同r 链基因; X- 连锁重症联合免疫缺陷病; 免疫功能缺陷
分类号:
R722.11；Q754
DOI:
10.3969/j.issn.1671-7414.2024.03.017
文献标志码:
A
摘要:
目的 探讨白细胞介素-2 受体共同r 链(interleukin 2 receptor gamma, IL-2RG) 基因新发变异导致患儿重症联合免疫缺陷病（severe combined immunodeficiency，SCID）的分子遗传学特点和临床特征。方法 分析西北妇女儿童医院儿童血液内科收治的一例重症联合免疫缺陷病患儿的临床资料、实验室结果及基因检测数据。结果 一例两个月男婴，出生后反复感染入院治疗，患儿血细胞检测结果提示白细胞总数正常，但淋巴细胞明显减少；淋巴细胞亚群结果显示总T（CD3+），辅助T（CD3+CD4+），杀伤T（CD3+CD8+）和NK（CD3-CD16+CD56+）淋巴细胞占比明显减低，而B（CD3-CD19+）淋巴细胞占比明显升高；IgG 明显减低，IgM 和IgA 小于检测下限；该患儿在感染状态下细胞因子水平未明显升高。患儿母亲家系中近3 代有9 例男性在出生后1 岁内因反复感染致死，核心家系全外显子组测序结果发现，患儿X 染色体IL-2RG 基因（chrX：70329160）存在半合新发错义突变[c.675 C>A，p.S225R（p.Ser225Arg）]，其母亲为携带者。依据以上证据患儿被确诊为X 连锁重症联合免疫缺陷病（X-SCID）。随后每月静脉注射免疫球蛋白并服用常规抗生素和抗病毒药物预防感染，为患者造血干细胞移植做准备。因患儿出生后已接种卡介苗，患儿6 月龄出现了播散性卡介苗病。经治疗后行造血干细胞移植。结论 X-SCID 患儿机体免疫功能缺陷严重，危及生命，接种活疫苗可能导致严重感染；该研究发现IL-2RG 基因c.675 C>A 突变是先证者X-SCID 遗传学病因的新发致病变异，扩充了X-SCID致病基因IL-2RG 的基因变异谱。
Abstract:
Objective To investigate the molecular genetic characteristics and clinical characteristics of severe combined immunodeficiency (SCID) in children caused by a novel mutation of interleukin 2 receptor gamma IL-2RG gene. Methods The clinical data, laboratory results and genetic testing data of a child with SCID admitted to the Department of Children’s Hematology of Northwest Women and Children’s Hospital were analyzed. Results A two-month-old male infant was admitted to the hospital for treatment due to recurrent infections after birth. The child’s blood routine results showed that the total number of white blood cells was normal, but lymphocytes were decreased. The lymphocyte subpopulation results showed a significant decrease in the proportion of total T (CD3+), helper T (CD3+CD4+), killer T (CD3+CD8+), and NK (CD3-CD16+CD56+) lymphocytes, while the proportion of B (CD3-CD19+) lymphocytes were increased. The immunoglobulin levels showed a significant decrease in IgG, and IgM and IgA were below the lower detection limit. The patient’s cytokine levels did not significantly increase during infection. In the last three generations of the mother’s family, 9 males died of infection within one year after birth. The whole exome sequencing results of the core family revealed a semi zygous new missense mutation [c.675 C>A, p.S225R (p.Ser225Arg)] in the IL-2RG gene on the X chromosome (chrX: 70329160) of the patient, and the mother was a carrier. Based on the above evidence, the child was diagnosed with X-SCID. Subsequently, intravenous immunoglobulin was injected monthly, and routine antibiotics and antiviral drugs were taken to prevent infection, preparing for hematopoietic stem cell transplantation. Because the child was vaccinated with BCG after birth, the child developed disseminated BCG disease at the age of 6 months. After treatment, hematopoietic stem cell transplantation was performed. Conclusion The immune function of the X-SCID patient was severely compromised, which endangered the patient’s life, and vaccination with live vaccines may lead to severe infections. This study found that the c. 675 C>A mutation of the IL-2RG gene was a novel pathogenic variation of the genetic cause of X-SCID, expanding the mutation spectrum of the X-SCID pathogenic gene IL-2RG.

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备注/Memo

备注/Memo:
作者简介：朱童（1981-），女，学士，主管技师，主要从事感染与免疫研究，E-mail：42845560@qq.com。
通讯作者：孟改利（1986-），女，硕士，副主任技师，研究方向：感染与免疫，E-mail：mgl170618@sina.com。
更新日期/Last Update: 2024-05-15