Research Article
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Cryptogenic cirrhosis and Common variable immunodeficiency: an unrecognized relationship

Year 2025, Volume: 11 Issue: 2, 244 - 250
https://doi.org/10.18621/eurj.1611288

Abstract

Objective: This study investigates the prevalence of Common Variable Immunodeficiency (CVID) in patients with cryptogenic cirrhosis. It aims to highlight CVID's role in liver involvement and raise awareness of its potential as an underlying cause of cryptogenic cirrhosis.

Methods: This retrospective cohort study, approved by the ethics committee, included patients diagnosed with cryptogenic cirrhosis at a university hospital. Comprehensive evaluations were performed to exclude other causes of cirrhosis, and patients were screened for CVID based on the European Society for Immunodeficiencies (ESID) criteria.

Results: This study included 30 patients with cryptogenic cirrhosis, among whom 6.7% (n=2) were diagnosed with CVID. Both CVID patients had low immunoglobulin levels and abnormal immune cell profiles, leading to recurrent infections in one case and suspicion due to low total protein levels in the other. IVIG treatment was initiated for both, and liver biopsy findings in one patient suggested CVID-related liver involvement.

Conclusions: Determining the underlying causes of chronic liver diseases is crucial for guiding treatment and follow-up, potentially preventing cirrhosis progression and influencing liver transplantation eligibility. CVID screening in patients with cryptogenic cirrhosis should be considered, with appropriate treatments initiated as needed.

Ethical Statement

Ethics committee approval was received for this study from the Ethics Committee of Necmettin Erbakan University Meram Medical Faculty, who approved this study protocol (17.03.2023/4251). The study followed the guidelines and principles of the Declaration of Helsinki.

References

  • 1. Abbott JK, Gelfand EW. Common Variable Immunodeficiency: Diagnosis, Management, and Treatment. Immunol Allergy Clin North Am. 2015;35(4):637-658. doi: 10.1016/j.iac.2015.07.009.
  • 2. Crotty R, Taylor MS, Farmer JR, et al. Spectrum of Hepatic Manifestations of Common Variable Immunodeficiency. Am J Surg Pathol. 2020;44(5):617-625. doi: 10.1097/PAS.0000000000001452.
  • 3. Malphettes M, Gérard L, Carmagnat M, et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis. 2009;49(9):1329-1338. doi: 10.1086/606059.
  • 4. Yıldız E. Common variable immunodeficiency. In: Çölkesen F, ed., Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.16-27.
  • 5. Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol. 2007;31(12):1800-1812. doi: 10.1097/PAS.0b013e3180cab60c.
  • 6. Song J, Lleo A, Yang GX, et al. Common Variable Immunodeficiency and Liver Involvement. Clin Rev Allergy Immunol. 2018;55(3):340-351. doi: 10.1007/s12016-017-8638-z.
  • 7. Evcen R, Esen HH, Colkesen F, et al. Hepatic Involvement in Common Variable Immunodeficiency: a Single Center Experience. Asthma Allergy Immunol. 2024;22(2):130-137. doi: 10.21911/aai.2024.402.
  • 8. Nalbantoglu I, Jain D. Cryptogenic cirrhosis: Old and new perspectives in the era of molecular and genomic medicine. Semin Diagn Pathol. 2019;36(6):389-394. doi: 10.1053/j.semdp.2019.07.003.
  • 9. Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018;38(1):96-128. doi: 10.1007/s10875-017-0464-9.
  • 10. Ward C, Lucas M, Piris J, Collier J, Chapel H. Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol. 2008;153(3):331-337. doi: 10.1111/j.1365-2249.2008.03711.x.
  • 11. Farmer JR, Ong MS, Barmettler S, et al. Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets. Front Immunol. 2017;8:1740. doi: 10.3389/fimmu.2017.01740.
  • 12. Malamut G, Ziol M, Suarez F, et al. Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinemia and hepatic abnormalities. J Hepatol. 2008;48(1):74-82. doi: 10.1016/j.jhep.2007.08.011.
  • 13. Azzu V, Fonseca M, Duckworth A, et al. Liver disease is common in patients with common variable immunodeficiency and predicts mortality in the presence of cirrhosis or portal hypertension. J Allergy Clin Immunol Pract. 2019;7(7):2484-2486.e3. doi: 10.1016/j.jaip.2019.04.016.
  • 14. Baumert LS, Shih A, Chung RT. Management of liver disease and portal hypertension in common variable immunodeficiency (CVID). JHEP Rep. 2023;5(11):100882. doi: 10.1016/j.jhepr.2023.100882.
  • 15. Pecoraro A, Crescenzi L, Varricchi G, Marone G, Spadaro G. Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders. Front Immunol. 2020;11:338. doi: 10.3389/fimmu.2020.00338.
  • 16. Azizi G, Abolhassani H, Asgardoon MH, et al. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-115. doi: 10.1080/1744666X.2016.1224664.
  • 17. Mercado-Irizarry A, Torres EA. Cryptogenic cirrhosis: Current knowledge and future directions. Clin Liver Dis (Hoboken). 2016;7(4):69-72. doi: 10.1002/cld.539.
  • 18. Tinazzi E, Osti N, Beri R, et al. Pathogenesis of immune thrombocytopenia in common variable immunodeficiency. Autoimmun Rev. 2020;19(9):102616. doi: 10.1016/j.autrev.2020.102616.
Year 2025, Volume: 11 Issue: 2, 244 - 250
https://doi.org/10.18621/eurj.1611288

Abstract

References

  • 1. Abbott JK, Gelfand EW. Common Variable Immunodeficiency: Diagnosis, Management, and Treatment. Immunol Allergy Clin North Am. 2015;35(4):637-658. doi: 10.1016/j.iac.2015.07.009.
  • 2. Crotty R, Taylor MS, Farmer JR, et al. Spectrum of Hepatic Manifestations of Common Variable Immunodeficiency. Am J Surg Pathol. 2020;44(5):617-625. doi: 10.1097/PAS.0000000000001452.
  • 3. Malphettes M, Gérard L, Carmagnat M, et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis. 2009;49(9):1329-1338. doi: 10.1086/606059.
  • 4. Yıldız E. Common variable immunodeficiency. In: Çölkesen F, ed., Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.16-27.
  • 5. Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol. 2007;31(12):1800-1812. doi: 10.1097/PAS.0b013e3180cab60c.
  • 6. Song J, Lleo A, Yang GX, et al. Common Variable Immunodeficiency and Liver Involvement. Clin Rev Allergy Immunol. 2018;55(3):340-351. doi: 10.1007/s12016-017-8638-z.
  • 7. Evcen R, Esen HH, Colkesen F, et al. Hepatic Involvement in Common Variable Immunodeficiency: a Single Center Experience. Asthma Allergy Immunol. 2024;22(2):130-137. doi: 10.21911/aai.2024.402.
  • 8. Nalbantoglu I, Jain D. Cryptogenic cirrhosis: Old and new perspectives in the era of molecular and genomic medicine. Semin Diagn Pathol. 2019;36(6):389-394. doi: 10.1053/j.semdp.2019.07.003.
  • 9. Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018;38(1):96-128. doi: 10.1007/s10875-017-0464-9.
  • 10. Ward C, Lucas M, Piris J, Collier J, Chapel H. Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol. 2008;153(3):331-337. doi: 10.1111/j.1365-2249.2008.03711.x.
  • 11. Farmer JR, Ong MS, Barmettler S, et al. Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets. Front Immunol. 2017;8:1740. doi: 10.3389/fimmu.2017.01740.
  • 12. Malamut G, Ziol M, Suarez F, et al. Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinemia and hepatic abnormalities. J Hepatol. 2008;48(1):74-82. doi: 10.1016/j.jhep.2007.08.011.
  • 13. Azzu V, Fonseca M, Duckworth A, et al. Liver disease is common in patients with common variable immunodeficiency and predicts mortality in the presence of cirrhosis or portal hypertension. J Allergy Clin Immunol Pract. 2019;7(7):2484-2486.e3. doi: 10.1016/j.jaip.2019.04.016.
  • 14. Baumert LS, Shih A, Chung RT. Management of liver disease and portal hypertension in common variable immunodeficiency (CVID). JHEP Rep. 2023;5(11):100882. doi: 10.1016/j.jhepr.2023.100882.
  • 15. Pecoraro A, Crescenzi L, Varricchi G, Marone G, Spadaro G. Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders. Front Immunol. 2020;11:338. doi: 10.3389/fimmu.2020.00338.
  • 16. Azizi G, Abolhassani H, Asgardoon MH, et al. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-115. doi: 10.1080/1744666X.2016.1224664.
  • 17. Mercado-Irizarry A, Torres EA. Cryptogenic cirrhosis: Current knowledge and future directions. Clin Liver Dis (Hoboken). 2016;7(4):69-72. doi: 10.1002/cld.539.
  • 18. Tinazzi E, Osti N, Beri R, et al. Pathogenesis of immune thrombocytopenia in common variable immunodeficiency. Autoimmun Rev. 2020;19(9):102616. doi: 10.1016/j.autrev.2020.102616.
There are 18 citations in total.

Details

Primary Language English
Subjects Allergy
Journal Section Original Articles
Authors

Recep Evcen 0000-0002-6124-5816

Murat Bıyık 0000-0003-0558-2882

Fatih Çölkesen 0000-0002-6595-1267

Filiz Sadi Aykan 0000-0002-8941-5573

Mehmet Kılınç 0000-0003-1117-6872

Mehmet Emin Gerek 0000-0003-4792-0544

Tacettin Akçal 0000-0002-7218-8124

Eray Yıldız 0000-0002-9596-1773

Şevket Arslan 0000-0002-0343-0159

Early Pub Date February 6, 2025
Publication Date
Submission Date January 1, 2025
Acceptance Date January 19, 2025
Published in Issue Year 2025 Volume: 11 Issue: 2

Cite

AMA Evcen R, Bıyık M, Çölkesen F, Sadi Aykan F, Kılınç M, Gerek ME, Akçal T, Yıldız E, Arslan Ş. Cryptogenic cirrhosis and Common variable immunodeficiency: an unrecognized relationship. Eur Res J. 11(2):244-250. doi:10.18621/eurj.1611288

e-ISSN: 2149-3189 


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