Title:Malignancy in Common Variable Immune Deficiency: Report of Two Rare Cases of Gastrointestinal Malignancy and a Review of the Literature
Volume: 12
Issue: 1
Author(s): Casey Watkins, Ryan Sahni, Nikhil Holla, John Litchfield, George Youngberg and Guha Krishnaswamy
Affiliation:
Keywords:
Common variable immune deficiency, Hypogammaglobulinemia, Malignancy, Granulocytic sarcoma,
Adenosquamous carcinoma, Immune surveillance, leukocytosis, neoplasia, colonoscopy
Abstract: Patients can develop malignancies due to various reasons including genetic factors, chemical carcinogens,
radiation, and defects in their immune system. The immune system is postulated to carry out routine surveillance for
malignancy. Patients who have defective immune responses may be susceptible to malignancies due to complicated
underlying mechanisms. These include defective immune response to cancer-causing bacteria, transforming viruses,
and concomitant molecular, cellular and immunoregulatory defects. Common variable immune deficiency (CVID) is
characterized by hypogammaglobulinemia, impaired antibody responses and an increased susceptibility to infections. A
disorderly immune response, or immune dysregulation, may also lead to autoimmune complications and possibly to
malignancy. The treatment of CVID involves infusion of replacement doses of immunoglobulin, either intravenously
(IGIV) or subcutaneously (SCIG). However, it is unclear whether adequate replacement of immunoglobulins is sufficient
to prevent the increased risk of malignancy seen in this disease. We present two cases of unusual solid tumors
complicating CVID treated with adequate doses of intravenous immunoglobulins. In this study we review the occurrence
of malignancy in patients with CVID and postulate mechanisms that may be involved indigent to this disease. We will
also review the role of replacement immunoglobulin and discuss cancer screening in these high risk individuals.
