Abstract

Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunological phenotypes. A high risk for cancer has been described for some types of cancer among patients with CVID. Mutations in p53, a critical tumor suppressor gene, are one of the most common genetic alterations in human cancers, therefore contributes to the complex network of molecular events leading to tumor formation. This prompted us to investigate the incidence of p53 gene mutations in patients with CVID and evaluated the predictive risk for tumor development. We investigated the presence of p53 mutations in patients with CVID, tumor samples and in the surgical margins of 34 patients with head and neck cancer using single strand conformational polymorphism and sequencing analysis. We investigated the presence of p53 mutations in genomic DNA samples of 20 patients with CVID and 10 healthy controls using polymerase chain reaction and heteroduplex analysis. None of the patients were found to have p53 gene mutations. Only one patient developed non-Hodgkin lymphoma (NHL) during nine years follow-up. P53 mutations was not also detected in tumor biopsy sample. We found no statistically significant association between the presences of p53 mutations in patients with CVID.

Key words: Common variable immunodeficiency, p53 gene, tumor development, apoptosis.