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Malignancies in Inborn Errors of Immunity

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Cancer Research: An Interdisciplinary Approach

Part of the book series: Interdisciplinary Cancer Research ((ICR,volume 1))

Abstract

Inborn errors of immunity (IEI), also known as primary immunodeficiencies (PIDs), are heterogeneous group of genetic disorders with various clinical spectrum including predisposition to infections, autoimmunity, allergies, and malignancies. Recent developments in early diagnoses and therapeutic modalities resulting in cure of several IEIs may result in decreased prevalence of malignancies in IEIs and cure of certain primary malignancies associated with IEI. As one of the leading causes of mortality in IEIs, malignancies may develop in 1.5–25% of patients. They may occur due to primary genetic abnormalities such as in patients with DNA repair defects or defects in apoptosis, chronic infectious stimulation such as cryptosporidium, and Epstein-Barr virus (EBV) or human papilloma virus (HPV) infections, as a complication of immunosuppressive or immunomodulatory medications, or any combination of these factors. Registry studies as well as single- and multi-center cohort studies consistently report that the most common malignancies in IEIs include lymphoma and gastrointestinal cancers. The higher incidence of other types of malignancies has been also reported for specific cancers in different types of IEIs. In this chapter, we review the frequency and prognosis of malignancies in different categories of IEIs and discuss possible mechanisms in the pathogenesis. We focus on the IEIs that are most commonly associated with malignancies.

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Authors and Affiliations

  1. Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, CA, USA

    Yesim Yilmaz Demirdag & Sudhir Gupta

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  1. Yesim Yilmaz Demirdag
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  2. Sudhir Gupta
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Correspondence to Sudhir Gupta .

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  1. Cancer Immunology Project (CIP), Universal Scientific Education and Research Network (USERN), Stockholm, Sweden

    Nima Rezaei

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Demirdag, Y.Y., Gupta, S. (2022). Malignancies in Inborn Errors of Immunity. In: Rezaei, N. (eds) Cancer Research: An Interdisciplinary Approach. Interdisciplinary Cancer Research, vol 1. Springer, Cham. https://doi.org/10.1007/16833_2022_17

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