Research Information System
in: Cancers in Different Conditions, Cancer Research Methods and Diagnosis: An Interdisciplinary Approach, Nima Rezai, Editor, Springer, London/Berlin , London, pp.113-130, 2025
Inborn errors of immunity (IEI) are genetic disorders that impair the immune system, contributing to complications such as lymphoproliferation/malignities in addition to infectious, autoimmune/lymphoproliferative, and allergic diseases. This chapter delves into the complex relationship between immune deficiency, viral infections, and cancer development to stress the importance of early detection, targeted therapies, and preventive measures and to improve cancer outcomes. Epstein-Barr virus (EBV), human papillomavirus (HPV), and human herpesvirus 8 (HHV8) significantly contribute to lymphoproliferation/cancer development in IEI due to impaired immune response, chronic inflammation, and viral-driven cellular transformation. Genetic defects that affect DNA repair, stem cell function, and immune signaling pathways further elevate malignancy risk in these patients. Diagnosing virus-associated malignancies in these patients involves comprehensive clinical evaluation, viral serology, polymerase chain reaction (PCR) testing, imaging, and biopsies to detect viral markers. Infection control is vital due to the high risk of opportunistic infections. Therapies, such as intravenous immunoglobulin replacement, hematopoietic stem cell transplantation, granulocyte or plasma infusions, and chemotherapy and radiotherapy regimens, are directed at the specific IEI type. Managing virus-associated cancer in IEI requires a multidisciplinary approach that includes restoration of immune function, antiviral therapies, and tailored treatments. Diagnosing the genetic predisposition to virus-induced cancers is also critical and highlights the need for IEI gene-specific and individualized therapies, family screening, and genetic counseling. Advanced therapies such as gene therapy and virus-specific T cell therapy show promise in managing persistent viral infections. Future research directions aim to improve diagnostic biomarkers, develop gene-editing technologies, and advance personalized immunotherapies to meet the needs of individuals with IEI and reduce their long-term complications.