Skip to main content

Advertisement

Log in

Common Variable Immunodeficiency Disease and Rectal Squamous Cell Carcinoma: a Case Report of a Rare Syndromic Tumor Type

  • Case Report
  • Published:
Journal of Gastrointestinal Cancer Aims and scope Submit manuscript

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
Fig. 2
Fig. 3

References

  1. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clin Immunol. 1999;93:190–7.

    Article  CAS  PubMed  Google Scholar 

  2. Mellemkjaer L, Hammarström L, Andersen V, Yuen J, Heilmann C, Barington T, et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol. 2002;130:495–500.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92:34–48.

    Article  CAS  PubMed  Google Scholar 

  4. Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol. 2007;27:308–16.

    Article  PubMed  Google Scholar 

  5. Zullo A, Romiti A, Rinaldi V, Vecchione A, Tomao S, Aiuti F, et al. Gastric pathology in patients with common variable immunodeficiency. Gut. 1999;45:77–81.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Twomey JJ, Jordan PH, Jarrold T, Trubowitz S, Ritz ND, Conn HO. The syndrome of immunoglobulin deficiency and pernicious anemia: a study of ten cases. Am J Med. 1969;47:340–50.

    Article  CAS  PubMed  Google Scholar 

  7. Douglas SD, Goldberg LS, Fudenberg HH, Goldberg SB. Agammaglobulinaemia and co-existent pernicious anaemia. Clin Exp Immunol. 1970;6:181.

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Palefsky JM, Holly EA, Hogeboom CJ, Ralston ML, DaCosta MM, Botts R, et al. Virologic, immunologic, and clinical parameters in the incidence and progression of anal squamous intraepithelial lesions in HIV-positive and HIV-negative homosexual men. J Acquir Immune Defic Syndr. 1998;17:314–9.

    Article  CAS  Google Scholar 

  9. Sillman FH, Sedlis A. Anogenital papillomavirus infection and neoplasia in immunodeficient women: an update. Dermatol Clin. 1991;9:353–69.

    CAS  PubMed  Google Scholar 

  10. Penn I. Incidence and treatment of neoplasia after transplantation. J Heart Lung Transplant. 1992;12:S328–36.

    Google Scholar 

  11. Arends MJ, Benton EC, McLaren KM, Stark LA, Hunter JA, Bird CC. Renal allograft recipients with high susceptibility to cutaneous malignancy have an increased prevalence of human papillomavirus DNA in skin tumours and a greater risk of anogenital malignancy. Br J Cancer. 1997;75:722.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Cunningham-Rundles S, Cunningham-Rundles C, Siegal FP, Gupta S, Smithwick EM, Kosloff C, et al. Defective cellular immune response in vitro in common variable immunodeficiency. J Clin Immunol. 1981;1:65–72.

    Article  CAS  PubMed  Google Scholar 

  13. Pastorelli G, Roncarolo MG, Touraine JL, Peronne G, Tovo PA, De Vries JE. Peripheral blood lymphocytes of patients with common variable immunodeficiency (CVI) produce reduced levels of interleukin-4, interleukin-2 and interferon-gamma, but proliferate normally upon activation by mitogens. Clin Exp Immunol. 1989;78:334.

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Strober W, Chua K. Common variable immunodeficiency. Clin Rev Allergy Immunol. 2000;19:157–81.

    Article  CAS  PubMed  Google Scholar 

  15. 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 

  16. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119:1650–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Gathmann B, Mahlaoui N, Gérard L, Oksenhendler E, Warnatz K, Schulze I, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134:116–26.

    Article  PubMed  Google Scholar 

  18. Schroeder Jr HW, Schroeder 3rd HW, Sheikh SM. The complex genetics of common variable imunodeficiency. J Investig Med. 2004;52:90–103.

    CAS  PubMed  Google Scholar 

  19. Vořechovský I, Cullen M, Carrington M, Hammarström L, Webster AD. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol. 2000;164:4408–16.

    Article  PubMed  Google Scholar 

  20. Mannhalter JW, Fischer MB, Hauber I, Eggenbauer H, Thon V, Vogel E, et al. A defect in the early phase of T-cell receptor-mediated T-cell. Blood. 1994;84:4234–41.

    PubMed  Google Scholar 

  21. Ferrer JM, Iglesias J, Hernandez M, Matamoros N. Alterations in interleukin secretion (IL-2 and IL-4) by CD4 and CD4 CD45RO cells from common variable immunodeficiency (CVI) patients. Clin Exp Immunol. 1995;102:286.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Brouet JC, Chedeville A, Fermand JP, Royer B. Study of the B cell memory compartment in common variable immunodeficiency. Eur J Immunol. 2000;30:2516–20.

    Article  CAS  PubMed  Google Scholar 

  23. Warnatz K, Denz A, Dräger R, Braun M, Groth C, Wolff-Vorbeck G, et al. Severe deficiency of switched memory B cells (CD27+ IgM− IgD−) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood. 2002;99:1544–51.

    Article  CAS  PubMed  Google Scholar 

  24. Yu JE, Knight AK, Radigan L, Marron TU, Zhang L, Sanchez-Ramón S, et al. Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J Allergy Clin Immunol. 2009;124:349–56.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Mueller BU, Pizzo PA. Cancer in children with primary or secondary immunodeficiencies. J Pediatr. 1995;126:1–10.

    Article  CAS  PubMed  Google Scholar 

  26. Kinlen LJ, Webster ADB, Bird AG, Haile R, Peto J, Soothill JF, et al. Prospective study of cancer in patients with hypogammaglobulinaemia. Lancet. 1985;325:263–6.

    Article  Google Scholar 

  27. Wheat WH, Cool CD, Morimoto Y, Rai PR, Kirkpatrick CH, Lindenbaum BA, et al. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med. 2005;202:479–84.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Dhalla F, da Silva SP, Lucas M, Travis S, Chapel H. Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol. 2011;165:1–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Münger K, Baldwin A, Edwards KM, Hayakawa H, Nguyen CL, Owens M, et al. Mechanisms of human papillomavirus-induced oncogenesis. J Virol. 2004;78:11451–60.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Hoots BE, Palefsky JM, Pimenta JM, Smith JS. Human papillomavirus type distribution in anal cancer and anal intraepithelial lesions. Int J Cancer. 2009;124:2375–83.

    Article  CAS  PubMed  Google Scholar 

  31. Gillison ML, Shah KV. Human papillomavirus–associated head and neck squamous cell carcinoma: mounting evidence for an etiologic role for human papillomavirus in a subset of head and neck cancers. Curr Opin Oncol. 2001;13:183–8.

    Article  CAS  PubMed  Google Scholar 

  32. Skiadopoulos MH, McBride AA. Bovine papillomavirus type 1 genomes and the E2 transactivator protein are closely associated with mitotic chromatin. J Virol. 1998;72:2079–88.

    CAS  PubMed  PubMed Central  Google Scholar 

  33. Jeon S, Allen-Hoffmann BL, Lambert PF. Integration of human papillomavirus type 16 into the human genome correlates with a selective growth advantage of cells. J Virol. 1995;69:2989–97.

    CAS  PubMed  PubMed Central  Google Scholar 

  34. Dyson NP, Howley M, Münger K, Harlow E. The human papillomavirus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product. Science. 1989;243:934–7.

    Article  CAS  PubMed  Google Scholar 

  35. Cam H, Dynlacht BD. Emerging roles for E2F: beyond the G1/S transition and DNA replication. Cancer Cell. 2003;3:311–6.

    Article  CAS  PubMed  Google Scholar 

  36. Scheffner M, Huibregtse JM, Vierstra RD, Howley PM. The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell. 1993;75:495–505.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Allison Goldberg.

Ethics declarations

Conflict of Interest

The authors declare that they have no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Goldberg, A., Rose, L. & McCue, P. Common Variable Immunodeficiency Disease and Rectal Squamous Cell Carcinoma: a Case Report of a Rare Syndromic Tumor Type. J Gastrointest Canc 47, 470–473 (2016). https://doi.org/10.1007/s12029-015-9776-2

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12029-015-9776-2

Keywords

Navigation