Skip to main content

Advertisement

Log in

Gastrointestinal Pathologic Abnormalities in Pediatric- and Adult-Onset Common Variable Immunodeficiency

  • Original Article
  • Published:
Digestive Diseases and Sciences Aims and scope Submit manuscript

Abstract

Background

Common variable immunodeficiency is the most common form of primary symptomatic immunodeficiency. Gastrointestinal manifestations, such as gastritis, diarrhea, gastrointestinal infections, and malabsorption, may complicate the clinical history in almost 50 % of patients.

Aim

To evaluate gastrointestinal histopathological findings in pediatric- and in adult-onset common variable immunodeficiency patients.

Methods

Twenty-two patients with common variable immunodeficiency (13 children, nine adults) were retrospectively studied from a clinical and histopathological point of view.

Results

Increased T lymphocyte infiltrate and the absence of plasma cells in duodenal lamina propria and submucosa were the most frequent findings, independently from onset age, whereas follicular lymphoid hyperplasia and polymorphonuclear infiltrate, as well as parasitic and viral infections, were only present in the adult group. Common variable immunodeficiency patients with minor gastrointestinal symptoms also presented pathological findings, mainly the absence of plasma cells, T cell infiltrate, and infections, independently of age.

Conclusions

Gastrointestinal pathological abnormalities are common in both pediatric- and adult-onset common variable immunodeficiency patients. Histological alterations may vary depending upon the age of onset, possibly due to duration of disease. Minor gastrointestinal symptoms are also associated with pathological findings; therefore, these should be searched in all symptomatic patients.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008;372:489–502.

    Article  PubMed  Google Scholar 

  2. Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R. Common variable immunodeficiency: an update on etiology and management. Immunol Allergy Clin N Am. 2008;28:367–386.

    Article  Google Scholar 

  3. Sanford JP, Favour CB, Tribeman MS. Absence of serum gamma globulins in an adult. N Engl J Med. 1954;250:1027–1029.

    Article  CAS  PubMed  Google Scholar 

  4. Salzer U, Maul-Pavicic A, Cunningham-Rundles C, et al. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol. 2004;113:234–240.

    Article  CAS  PubMed  Google Scholar 

  5. Castigli E, Wilson SA, Garibyan L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37:829–834.

    Article  CAS  PubMed  Google Scholar 

  6. Salzer U, Chapel HM, Webster AD, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37:820–828.

    Article  CAS  PubMed  Google Scholar 

  7. Warnatz K, Salzer U, Rizzi M, et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci USA. 2009;106:13945–13950.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  8. van Zelm M, Reisli I, van der Burg M, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med. 2006;354:1901–1912.

    Article  PubMed  Google Scholar 

  9. Kuijpers TW, Bende RJ, Baars PA, et al. CD20 deficiency in humans results in impaired T-cell dependent antibody responses. J Clin Invest. 2010;120:214–222.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. van Zelm M, Smet J, Adams B, et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010;120:1265–1274.

    Article  PubMed Central  PubMed  Google Scholar 

  11. Thiel J, Kimmig L, Salzer U, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol. 2012;129:801–810.

    Article  CAS  PubMed  Google Scholar 

  12. Malamut G, Verkarre V, Suarez F, et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol. 2010;105:2262–2275.

    Article  CAS  PubMed  Google Scholar 

  13. Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency: a clinicopathologic study and review. Am J Surg Pathol. 2007;31:1800–1812.

    Article  PubMed  Google Scholar 

  14. Khodadad A, Aghamohammadi A, Parvaneh N, et al. Gastrointestinal manifestations in patients with common variable immunodeficiency. Dig Dis Sci. 2007;52:2977–2983.

    Article  PubMed  Google Scholar 

  15. Elnachef N, McMorris M, Chey WD. Successful treatment of common variable immunodeficiency disorder-associated diarrhea with budesonide: a case report. Am J Gastroenterol. 2007;102:1322–1325.

    Article  PubMed  Google Scholar 

  16. Chua I, Standish R, Lear S, et al. Anti-tumour necrosis factor-alpha therapy for severe enteropathy in patients with common variable immunodeficiency. Clin Exp Immunol. 2007;150:306–311.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  17. Luzi G, Zullo A, Iebba F, et al. Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients. Am J Gastroenterol. 2003;98:118–121.

    Article  PubMed  Google Scholar 

  18. Biagi F, Bianchi PI, Zilli A, et al. The significance of duodenal mucosal atrophy in patients with common variable immunodeficiency: a clinical and histopathologic study. Am J Clin Pathol. 2012;138:185–189.

    Article  PubMed  Google Scholar 

  19. Zullo A, Romiti A, Rinaldi V, et al. Gastric pathology in patients with common variable immunodeficiency. Gut. 1999;45:77–81.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

Download references

Acknowledgments

The research leading to these results has received funding from the European Community’s Seventh Framework Programme FP7/2007-2013 under Grant Agreement No. 201549. (EURO-PADnet HEALTH-F2-2008-201549). We would like to thank the patients, the patients’ families, and the nurses for all their efforts.

Conflict of interest

None.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Gabrio Bassotti.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lougaris, V., Ravelli, A., Villanacci, V. et al. Gastrointestinal Pathologic Abnormalities in Pediatric- and Adult-Onset Common Variable Immunodeficiency. Dig Dis Sci 60, 2384–2389 (2015). https://doi.org/10.1007/s10620-015-3638-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10620-015-3638-4

Keywords

Navigation