成人普通变异型免疫缺陷病1例报道并文献复习

钟海媚; 凌华湘; 黄立霞; 王红燕

doi:10.16766/j.cnki.issn.1674-4152.003357

成人普通变异型免疫缺陷病1例报道并文献复习

doi: 10.16766/j.cnki.issn.1674-4152.003357

1.
华中科技大学协和深圳医院全科医学科，广东深圳 518052
2.
暨南大学第二临床医学院，广东深圳 518020
3.
华中科技大学协和深圳医院呼吸与危重症医学科
4.
华中科技大学协和深圳医院感染科

基金项目:

广东省医学科学技术研究基金项目 A2022497

详细信息

通讯作者:
王红燕，E-mail: doctorwanghongyan@163.com

中图分类号: R593.3
计量
- 文章访问数: 84
- HTML全文浏览量: 30
- PDF下载量: 15
- 被引次数: 0
出版历程
- 收稿日期: 2023-05-11
- 网络出版日期: 2024-03-09

Adult common variable immunodeficiency: a case report and literature review

1.
Department of General Practice, Union Shenzhen Hospital of Huazhong University of Science and Technology, Shenzhen, Guangdong 518052, China

摘要

摘要: 本文报道1例成人普通变异型免疫缺陷病(CVID)，患者男性, 38岁，发病前身体素质良好，10年前开始因反复发生肺部及其他部位感染多次住院，此次因“肺部感染”再次入院，入院查免疫球蛋白普遍低下，排除其他引起免疫球蛋白低下的可能原因后考虑诊断CVID，予积极静脉补充免疫球蛋白、抗感染等治疗后症状缓解，但予静脉输入丙种球蛋白后复查免疫球蛋白并无明显提高，建议患者出院后长期规律补充丙种球蛋白后复查。
- 普通可变性免疫缺陷 /
- 疾病特征 /
- 免疫
Abstract: This paper reports a case of adult common variable immunodeficiency (CVID). The patient was a 38-year old man who had been in good health prior to the onset of the disease and had been hospitalized several times over the previous 10 years for pulmonary and other infections. This time, the patient was hospitalized again for a lung infection and was found to have low immunoglobulin levels. After excluding other possible causes of low immunoglobulin, the patient was diagnosed with CVID. The symptoms improved after intravenous immunoglobulin, anti-infective and other treatments. However, there was no significant improvement in immunoglobulin. It is suggested that the patient should be regularly supplemented with intravenous immunoglobulin for a long time after discharge. The relevant literature was also reviewed in this paper.
- Common variable immunodeficiency /
- Disease characteristics /
- Immunity

HTML全文

图 1 支气管镜下活检肺组织病理(HE染色，×80)

Figure 1. Pathology section of lung tissue form the bronchoscopic biopsy (HE staining, ×80)

下载: 全尺寸图片幻灯片

表 1 患者外周血及肺泡灌洗液淋巴细胞亚群比值

Table 1. Lymphocyte subsets ratio in peripheral blood and alveolar lavage fluid

项目名称	检测结果	参考范围
外周血
CD3⁺(%)	89.70	61.00~85.00
CD3⁺CD4⁺(%)	19.00	28.00~58.00
CD3⁺CD8⁺(%)	65.60	19.00~48.00
CD4⁺/CD8⁺比值	0.29	0.90~3.60
CD3^-CD19⁺(%)	7.80	9.00~14.00
CD3^-CD56⁺(%)	0.80	10.00~19.80
CD3^-CD56⁺CD16⁺(%)	7.40	0~2.00
肺泡灌洗液
CD3⁺(%)	89.80	70.00^[2]
CD3⁺CD4⁺(%)	58.10	50.00^[2]
CD3⁺CD8⁺(%)	29.80	30.00^[2]
CD4⁺/CD8⁺比值	1.95	1.50~1.80^[2]
注：肺泡灌洗液参考范围参照文献[2]。

下载: 导出CSV

表 2 患者的免疫球蛋白水平

Table 2. The patient's immunoglobulin levels

血清总免疫球蛋白	治疗前	输注丙种球蛋白2.5 g/d，6 d后	参考范围
IgM(g/L)	0.86	0.18	0.40~2.30
IgA(g/L)	0.27	0.27	0.70~4.00
IgG(g/L)	1.46	1.77	7.00~16.00
C3(g/L)	0.86	1.00	0.90~1.80
C4(g/L)	0.23	0.26	0.10~0.40

下载: 导出CSV

参考文献(22)

[1]	GRZEŚ K E, DABROWSKA A, URBAÑCZYK A, et al. Common variable immunodeficiency: different faces of the same disease[J]. Postepy Dermatol Alergol, 2021, 38(5): 873-880. doi: 10.5114/ada.2021.110067
[2]	中华医学会呼吸病学分会. 支气管肺泡灌洗液细胞学检测技术规范(草案)[J]. 中华结核和呼吸杂志, 2002, 25(7): 390-391. https://www.cnki.com.cn/Article/CJFDTOTAL-NBYX200304039.htm Chinese Thoracic Society. Technical Specification for cytological test of bronchoalveolar lavage Fluid (Draft)[J]. Chinese Journal of Tuberculosis and Respiratory Diseases, 2002, 25(7): 390-391. https://www.cnki.com.cn/Article/CJFDTOTAL-NBYX200304039.htm
[3]	CUNNINGHAM-RUNDLES C. Common variable immune deficiency: dissection of the variable[J]. Immunol Rev, 2019, 287(1): 145-161. doi: 10.1111/imr.12728
[4]	RESNICK E S, MOSHIER E L, GODBOLD J H, et al. Morbidity and mortality in common variable immune deficiency over 4 decades[J]. Blood, 2012, 119(7): 1650-1657. doi: 10.1182/blood-2011-09-377945
[5]	蔡萧鹏, 邱志峰, 谢静, 等. 普通变异型免疫缺陷病的临床特征及淋巴细胞亚群变化[J]. 中国临床医生, 2018, 46(6): 648-650. https://www.cnki.com.cn/Article/CJFDTOTAL-ZLYS201806009.htm CAI X P, QIU Z F, XIE J, et al. Clinical features and lymphocyte subset changes in common variant immunodeficiency disease[J]. Chinese Journal for Clinicians, 2018, 46(6): 648-650. https://www.cnki.com.cn/Article/CJFDTOTAL-ZLYS201806009.htm
[6]	MAGLIONE P, GEREIGE J, LEE T. Consideration of pulmonary hypertension in the evaluation of common variable immunodeficiency[J]. Ann Allergy Asthma Immunol, 2021, 127(4): 513. doi: 10.1016/j.anai.2021.07.024
[7]	J∅RGENSEN S, TR∅SEID M, KUMMEN M, et al. Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation[J]. Mucosal Immunol, 2016, 9(6): 1455-1465. doi: 10.1038/mi.2016.18
[8]	SOMPORNRATTANAPHAN M, TONGDEE R, WONGSA C, et al. Fatal liver mass rupture in a common-variable-immunodeficiency patient with probable nodular regenerating hyperplasia[J]. Allergy Asthma Clin, Immunol, 2022, 18(1): 2. doi: 10.1186/s13223-021-00643-1
[9]	ZAREZADEH MEHRABADI A, AGHAMOHAMADI N, ABOLHASSANI H, et al. Comprehensive assessment of skin disorders in patients with common variable immunodeficiency (CVID)[J]. J Clin Immunol, 2022, 42: 653-664. doi: 10.1007/s10875-022-01211-x
[10]	TINAZZI E, OSTI N, BERI R, et al. Pathogenesis of immune thrombocytopenia in common variable immunodeficiency[J]. Autoimmun Rev, 2020, 19(9): 102616. DOI: 10.1016/j.autrev.2020.102616.
[11]	AMERATUNGA R, ALLAN C, WOON S T. Defining common variable immunodeficiency disorders in 2020[J]. Immunol Allergy Clin North Am, 2020, 40(3): 403-420. doi: 10.1016/j.iac.2020.03.001
[12]	YAZDANI R, HABIBI S, SHARIFI L, et al. Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification, and management[J]. J Investig Allergol Clin Immunol, 2020, 30(1): 14-34. doi: 10.18176/jiaci.0388
[13]	KLOCPERK A, FRIEDMANN D, SCHLAAK A E, et al. Distinct CD8 T cell populations with differential exhaustion profiles associate with secondary complications in common variable immunodeficiency[J]. J Clin Immunol, 2022, 42(6): 1254-1269. doi: 10.1007/s10875-022-01291-9
[14]	WEHR C. Trying to understand NK cell Function in vivo points towards a severity score for CVID patients[J]. E Bio Medicine, 2016, 6: 18-19.
[15]	DIAZ-ALBEROLA I, ESPUCH-OLIVER A, GARCIA-AZNAR J M, et al. Common variable immunodeficiency associated with a De Novo IKZF1 variant and a low humoral immune response to the SARS-CoV-2 vaccine[J]. J Clin Med, 2022, 11(9): 2303. doi: 10.3390/jcm11092303
[16]	BOGAERT D J, DULLAERS M, LAMBRECHT B N, et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?[J]. J Med Genet, 2016, 53(9): 575-590. doi: 10.1136/jmedgenet-2015-103690
[17]	MILARDI G, DI LORENZO B, GEROSA J, et al. Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency[J]. Eur J Immunol, 2022, 52(7): 1171-1189. doi: 10.1002/eji.202149480
[18]	QUINTI I, SORESINA A, SPADARO G, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency[J]. J Clin Immunol, 2007, 27(3): 308-316. doi: 10.1007/s10875-007-9075-1
[19]	SIMÓN-FUENTES M, SÁNCHEZ-RAMÓN S, FERNÁNDEZ-PAREDES L, et al. Intravenous immunoglobulins promote an expansion of monocytic myeloid-derived suppressor cells (MDSC) in CVID patients[J]. J Clin Immunol, 2022, 42(5): 1093-1105. doi: 10.1007/s10875-022-01277-7
[20]	马旭灿, 丁颖威, 章炳文. 丙种球蛋白冲击治疗重症社区获得性肺炎的疗效及对患者血清免疫蛋白和淋巴细胞亚群的影响[J]. 中华全科医学, 2021, 19(9): 1497-1583. doi: 10.16766/j.cnki.issn.1674-4152.002095 MA X C, DING Y W, ZHANG B W. Effect of gamma globulin pulse therapy on patients with severe community-acquired pneumonia and on serum immune proteins and lymphocyte subsets[J]. Chinese Journal of General Practice, 2021, 19(9): 1497-1583. doi: 10.16766/j.cnki.issn.1674-4152.002095
[21]	BAUMANN U, ROUTES J, SOLER-PALACÍN P, et al. The lung in primary immunodeficiencies: new concepts in infection and inflammation[J]. Front Immunol, 2018, 9: 1837.
[22]	VAN LEEUWEN L, GEURTSVANKESSEL C, ELLERBROEK P, et al. Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity[J]. J Allergy Clin Immunol, 2022, 149(6): 1949-1957. doi: 10.1016/j.jaci.2022.04.002