Inborn Errors of Immunity and Cancer

Abstract

Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all of the studies published over the last 20 years using the keywords: “inborn errors of immunity” or “primary immunodeficiency” and “cancer” or “tumour” or “malignancy”. Literature analysis showed that the overall risk for cancer in children with IEI ranges from 4 to 25%. Several factors, namely, age of the patient, viral infection status and IEI type can influence the development of different cancer types. The knowledge of a specific tumour risk in the presence of IEI highlights the importance of a synergistic effort by immunologists and oncologists in tracking down the potential development of cancer in known IEI patients, as well as an underlying IEI in patients with newly diagnosed cancers. In the current genomic era, the creation of an international registry of IEI cases integrated with malignancies occurrence information is fundamental to optimizing the diagnostic process and to evaluating the outcomes of new therapeutic options, with the hope to obtain a better prognosis for these patients.

Surgical Antimicrobial Prophylaxis in Neonates and Children with Special High-Risk Conditions: A RAND/UCLA Appropriateness Method Consensus Study

“…On a purely theoretical level, the presence of an immunodeficiency, be it congenital or acquired, should result in a greater risk of the onset of SSIs [ 26 ]. In reality, the increase in risk and the extent of this risk as a function of the type and severity of the immune deficiency on the one hand and the type of intervention on the other hand have not been studied, except in particular clinical conditions and in small numbers of adult patients.…”

Diversity of malignancies in patients with different types of inborn errors of immunity

“…Primary immunodeficiency disorders (PIDs) or inborn errors of immunity (IEI) are a heterogeneous group of inherited disorders, usually associated with specific gene mutations [ 1 , 2 ]. The overall incidence of IEIs has been reported to be 1 per 10,000 individuals [ 3 ].…”

“…Moreover, these defects lead to reduced life expectancy in patients with IEI, in addition to diverse clinical manifestations including increased susceptibility to recurrent or prolonged infections, immune dysregulation phenotypes (such as severe atopy, allergy, autoimmunity, uncontrolled inflammation, lymphoproliferation), as well as predisposition to malignancies [ 6 ]. Malignancies are the second-leading cause of death in children and adults with IEI after infections [ 2 , 7 ]. Given IEIs rarity, ascertaining the exact incidence rates of malignancies correlated with IEI is difficult.…”

“…The type of malignancy is highly dependent on the IEI subtype and the patient’s age [ 2 , 12 ]. According to the previous reports, the most common IEIs associated with cancer are ataxia-telangiectasia (A-T), common variable immunodeficiency (CVID), as well as combined immunodeficiency (CID); furthermore, other PIDs were reported to be associated with malignancies, including severe combined immunodeficiency (SCID), agammaglobulinemia X-linked (XLA), and Wiskott-Aldrich syndrome (WAS) [ 12 , 13 ].…”

Skin manifestations in children with inborn errors of immunity in a tertiary care hospital in Iran

“…1 These defects may lead to increased susceptibility to infectious, autoinflammatory, autoimmune, allergic, and neoplastic manifestations. [2][3][4] Today, more than 400 distinct disorders with IEI are recognized and, with technical advancements in next-generation sequencing, the number is growing rapidly. 5,6 Inborn Errors of Immunity (IEIs) present with highly variable clinical presentations, among which cutaneous involvement is relatively common and occur in nearly 40% of patients with IEI over a lifetime of the disease course.…”