普通变异性免疫缺陷症临床诊疗思维
Clinical Diagnosis and Treatment Thinking of Common Variable Immunodeficiency
DOI: 10.12677/ACM.2023.1361350, PDF,   
作者: 谢卓君:暨南大学第一临床医学院,广东 广州;肖小敏*:暨南大学附属第一医院产科,广东 广州
关键词: 普通变异性免疫缺陷症临床表现治疗Common Variable Immunodeficiency Clinical Manifestations Therapy
摘要: 普通变异性免疫缺陷症(CVID)是一种以低免疫球蛋白血症、反复细菌感染为主要特征的异质性免疫缺陷综合征,临床罕见,易于漏诊、误诊。大量研究表明,不同的免疫和遗传缺陷参与了CVID的发病机制。然而,在大多数情况下,这种疾病的遗传背景仍未查明。本文对普通变异性免疫缺陷症的临床表现、发病机制、诊断和治疗进行归纳、总结,为该病的早期诊断、早期治疗提供依据,以减低误诊、漏诊率。
Abstract: Common variable immunodeficiency (CVID) is a rarely encountered heterogeneous immunodefi-ciency syndrome characterized mainly by low immuneglobulinemia and repeated bacterial infec-tions, easily to be missed and misdiagnosed. Numerous studies demonstrated that different immu-nological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss different as-pects of CVID including clinical manifestations, pathogenesis, diagnosis and management of the disease and provide basis for early diagnosis and treatment of the disease, so as to reduce the rate of misdiagnosis and missed diagnosis.
文章引用:谢卓君, 肖小敏. 普通变异性免疫缺陷症临床诊疗思维[J]. 临床医学进展, 2023, 13(6): 9648-9654. https://doi.org/10.12677/ACM.2023.1361350

参考文献

[1] Sanford, J.P., Favour, C.B. and Tribeman, M.S. (1954) Absence of Serum Gamma Globulins in an Adult. The New England Journal of Medicine, 250, 1027-1029. [Google Scholar] [CrossRef
[2] Ameratunga, R., Longhurst, H., Steele, R., et al. (2021) Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorders (CVID) in the New Zealand CVID Cohort Study. Clinical Reviews in Allergy & Immunology, 61, 236-244. [Google Scholar] [CrossRef] [PubMed]
[3] Mayor, P.C., Eng, K.H., Singel, K.L., et al. (2018) Cancer in Primary Immunodeficiency Diseases: Cancer Incidence in the United States Immune Deficiency Network Registry. Journal of Allergy and Clinical Immunology, 141, 1028-1035. [Google Scholar] [CrossRef] [PubMed]
[4] Chawla, S., Barman, P., Tyagi, R., et al. (2022) Autoimmune Cyto-penias in Common Variable Immunodeficiency Are a Diagnostic and Therapeutic Conundrum: An Update. Frontiers in Immunology, 13, Article ID: 869466. [Google Scholar] [CrossRef] [PubMed]
[5] 曲翠云, 刘葳, 付荣凤, 等. 脾切除治疗普通变异型免疫缺陷病合并血细胞减少一例报告并文献复习[J]. 中华血液学杂志, 2021, 42(10): 846-850.
[6] 陈雨莎, 袁梦鑫, 梁斌苗, 等. 普通变异性免疫缺陷病并细胞免疫功能缺陷致支气管扩张、肝硬化一例并文献复习[J]. 中国呼吸与危重监护杂志, 2019(2): 169-173.
[7] 熊文中. 普通变异型免疫缺陷病1例及文献复习[J]. 中国民康医学, 2019, 31(7): 43-45.
[8] 章秀, 蔡后荣, 赵婷婷, 等. 成人普通变异型免疫缺陷病2例并文献复习[J]. 临床肺科杂志, 2019, 24(5): 960-963.
[9] 龚胜兰, 蒲银, 谢玲俐, 等. 成人普通变异型免疫缺陷病13例并文献复习[J]. 南方医科大学学报, 2020, 40(8): 1213-1219.
[10] 徐梅先, 刘刚, 曹利静, 等. 新型STAT3基因突变致普通变异性免疫缺陷综合征一例报道及文献复习[J]. 中国全科医学, 2020, 23(20): 2599-2603.
[11] Gathmann, B., Mahlaoui, N., Gérard, L., et al. (2014) Clinical Picture and Treatment of 2212 Patients with Common Variable Immunodeficiency. Journal of Al-lergy and Clinical Immunology, 134, 116-126. [Google Scholar] [CrossRef] [PubMed]
[12] Janssen, L.M.A., van der Flier, M. and de Vries, E. (2021) Les-sons Learned from the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis. Frontiers in Immunology, 12, 620-709. [Google Scholar] [CrossRef] [PubMed]
[13] Cunningham-Rundles, C. (2019) Common Variable Immune De-ficiency: Case Studies. Blood, 134, 1787-1795. [Google Scholar] [CrossRef] [PubMed]
[14] Azizi, G., Abolhassani, H., Asgardoon, M.H., et al. (2017) Auto-immunity in Common Variable Immunodeficiency: Epidemiology, Pathophysiology and Management. Expert Review of Clinical Immunology, 13, 101-115. [Google Scholar] [CrossRef
[15] Zainaldain, H., Rizvi, F.S., Rafiemanesh, H., et al. (2020) Infectious Complications Reporting in Common Variable Immunodeficiency: A Systematic Review and Meta-Analysis. Oman Medical Journal, 35, e157. [Google Scholar] [CrossRef] [PubMed]
[16] Jolles, S. (2013) The Variable in Common Variable Immunodeficiency: A Disease of Complex Phenotypes. The Journal of Allergy and Clinical Immunology: In Practice, 1, 545-556. [Google Scholar] [CrossRef] [PubMed]
[17] Mohammadinejad, P., Aghamohammadi, A., Abolhassani, H., et al. (2012) Pediatric Patients with Common Variable Immunodeficiency: Long-Term Follow-Up. The Journal of Investiga-tional Allergology and Clinical Immunology, 22, 208-214.
[18] Yazdani, R., Abolhassani, H., Asgardoon, M.H., et al. (2017) Infectious and Noninfectious Pulmonary Complications in Patients with Primary Immunodeficiency Disorders. The Journal of Investigational Allergology and Clinical Immunology, 27, 213-224. [Google Scholar] [CrossRef] [PubMed]
[19] Oksenhendler, E., Gérard, L., Fieschi, C., et al. (2008) Infections in 252 Patients with Common Variable Immunodeficiency. Clinical Infectious Diseases, 46, 1547-1554. [Google Scholar] [CrossRef] [PubMed]
[20] Pecoraro, A., Nappi, L., Crescenzi, L., et al. (2018) Chronic Diarrhea in Common Variable Immunodeficiency: A Case Series and Review of the Literature. Journal of Clinical Immunology, 38, 67-76. [Google Scholar] [CrossRef] [PubMed]
[21] Andersen, I.M. and Jørgensen, S.F. (2022) Gut Inflammation in CVID: Causes and Consequences. Expert Review of Clinical Immunology, 18, 31-45. [Google Scholar] [CrossRef
[22] Uzzan, M., Ko, H.M., Mehandru, S., et al. (2016) Gastro-intestinal Disorders Associated with Common Variable Immune Deficiency (CVID) and Chronic Granulomatous Disease (CGD). Current Gastroenterology Reports, 18, Article No. 17. [Google Scholar] [CrossRef] [PubMed]
[23] Matson, E.M., Abyazi, M.L., Bell, K.A., et al. (2020) B Cell Dysregulation in Common Variable Immunodeficiency Interstitial Lung Disease. Frontiers in Immunology, 11, Article ID: 622114. [Google Scholar] [CrossRef] [PubMed]
[24] Pollock, G., Sharma, A. and Gy, M. (2020) Autoimmune Hepati-tis in a Patient with Common Variable Immunodeficiency. ACG Case Reports Journal, 7, e00467. [Google Scholar] [CrossRef] [PubMed]
[25] Agarwal, S. and Cunningham-Rundles, C. (2019) Autoim-munity in Common Variable Immunodeficiency. Annals of Allergy, Asthma & Immunology, 123, 454-460. [Google Scholar] [CrossRef] [PubMed]
[26] Tak Manesh, A., Azizi, G., Heydari, A., et al. (2017) Epidemiology and Pathophysiology of Malignancy in Common Variable Immunodeficiency? Allergologia et Immunopathologia (Madr), 45, 602-615. [Google Scholar] [CrossRef] [PubMed]
[27] Kiaee, F., Azizi, G., Rafiemanesh, H., et al. (2019) Malignancy in Common Variable Immunodeficiency: A Systematic Review and Meta-Analysis. Expert Review of Clinical Immunology, 15, 1105-1113. [Google Scholar] [CrossRef
[28] Pecoraro, A., Crescenzi, L., Varricchi, G., et al. (2020) Het-erogeneity of Liver Disease in Common Variable Immunodeficiency Disorders. Frontiers in Immunology, 11, Article No. 338. [Google Scholar] [CrossRef] [PubMed]
[29] Martin-Blondel, G., Camara, B., Selves, J., et al. (2010) Eti-ology and Outcome of Liver Granulomatosis: A Retrospective Study of 21 Cases. La Revue de Médecine Interne, 31, 97-106. [Google Scholar] [CrossRef] [PubMed]
[30] Pescador Ruschel, M.A. and Vaqar, S. (2023) Common Variable Immunodeficiency. StatPearls Publishing, Treasure Island.
[31] Roskin, K.M., Simchoni, N., Liu, Y., et al. (2015) IgH Sequences in Common Variable Immune Deficiency Reveal Altered B Cell Development and Selection. Sci-ence Translational Medicine, 7, 302ra135. [Google Scholar] [CrossRef] [PubMed]
[32] Salzer, U. and Grimbacher, B. (2021) TACI Deficiency—A Complex System out of Balance. Current Opinion in Immunology, 71, 81-88. [Google Scholar] [CrossRef] [PubMed]
[33] Bisgin, A., Sonmezler, O., Boga, I., et al. (2021) The Impact of Rare and Low-Frequency Genetic Variants in Common Variable Immunodeficiency (CVID). Scientific Reports, 11, Article No. 8308. [Google Scholar] [CrossRef] [PubMed]
[34] Fernando, S.L., Jang, H.S. and Li, J. (2021) The Immune Dysregulation of Common Variable Immunodeficiency Disorders. Immunology Letters, 230, 21-26. [Google Scholar] [CrossRef] [PubMed]
[35] Rae, W. (2017) Indications to Epigenetic Dysfunction in the Path-ogenesis of Common Variable Immunodeficiency. Archivum Immunologiae et Therapiae Experimentalis (Warsz), 65, 101-110. [Google Scholar] [CrossRef] [PubMed]
[36] Tuijnenburg, P., Lango Allen, H., Burns, S.O., et al. (2018) Loss-of-Function Nuclear Factor κB Subunit 1 (NFKB1) Variants Are the Most Common Monogenic Cause of Com-mon Variable Immunodeficiency in Europeans. Journal of Allergy and Clinical Immunology, 142, 1285-1296. [Google Scholar] [CrossRef] [PubMed]
[37] Maffucci, P., Filion, C.A., Boisson, B., et al. (2016) Genetic Diag-nosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. Frontiers in Immunology, 7, Article No. 220. [Google Scholar] [CrossRef] [PubMed]
[38] Yazdani, R., Habibi, S., Sharifi, L., et al. (2020) Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Man-agement. The Journal of Investigational Allergology and Clinical Immunology, 30, 14-34. [Google Scholar] [CrossRef] [PubMed]
[39] Ho, H.E. and Cunningham-Rundles, C. (2020) Non-Infectious Complica-tions of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis. Fron-tiers in Immunology, 11, Article No. 149. [Google Scholar] [CrossRef] [PubMed]
[40] Ameratunga, R., Brewerton, M., Slade, C., et al. (2014) Compari-son of Diagnostic Criteria for Common Variable Immunodeficiency Disorder. Frontiers in Immunology, 5, Article No. 415. [Google Scholar] [CrossRef] [PubMed]
[41] Conley, M.E., Notarangelo, L.D. and Etzioni, A. (1999) Di-agnostic Criteria for Primary Immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clinical Immunology, 93, 190-197. [Google Scholar] [CrossRef] [PubMed]
[42] Ameratunga, R., Woon, S.T., Gillis, D., et al. (2014) New Diagnostic Criteria for CVID. Expert Review of Clinical Immunology, 10, 183-186. [Google Scholar] [CrossRef
[43] Ameratunga, R., Woon, S.T., Gillis, D., et al. (2013) New Diagnostic Criteria for Common Variable Immune Deficiency (CVID), Which May Assist with Decisions to Treat with Intravenous or Subcutaneous Immunoglobulin. Clinical & Experimental Immunology, 174, 203-211. [Google Scholar] [CrossRef] [PubMed]
[44] Bonilla, F.A., Barlan, I., Chapel, H., et al. (2016) International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. The Journal of Allergy and Clinical Immunology: In Practice, 4, 38-59. [Google Scholar] [CrossRef] [PubMed]
[45] Wang, L.A. and Abbott, J.K. (2022) Common Variable Immunode-ficiency: Challenges for Diagnosis. Journal of Immunological Methods, 509, Article ID: 113342. [Google Scholar] [CrossRef] [PubMed]
[46] Orange, J.S., Hossny, E.M., Weiler, C.R., et al. (2006) Use of In-travenous Immunoglobulin in Human Disease: A Review of Evidence by Members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. Journal of Allergy and Clinical Immunology, 117, S525-S553. [Google Scholar] [CrossRef] [PubMed]
[47] Jolles, S., Chapel, H. and Litzman, J. (2017) When to Initiate Im-munoglobulin Replacement Therapy (IGRT) in Antibody Deficiency: A Practical Approach. Clinical & Experimental Immunology, 188, 333-341. [Google Scholar] [CrossRef] [PubMed]
[48] Lucas, M., Lee, M., Lortan, J., et al. (2010) Infection Outcomes in Patients with Common Variable Immunodeficiency Disorders: Relationship to Immunoglobulin Therapy over 22 Years. Journal of Allergy and Clinical Immunology, 125, 1354-1360. [Google Scholar] [CrossRef] [PubMed]
[49] Resnick, E.S., Moshier, E.L., Godbold, J.H., et al. (2012) Morbidity and Mortality in Common Variable Immune Deficiency over 4 Decades. Blood, 119, 1650-1657. [Google Scholar] [CrossRef] [PubMed]