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Epidemiology and management of malignancies in patients with inborn errors of immunity—An ESID registry study of 19,959 patients

  • Delfien J. A. Bogaert
  • , Christina H. Wolfsberger
  • , Andishe Attarbaschi
  • , Jonathan Gathmann
  • , Klaus Warnatz
  • , Gabriele Mueller
  • , Anna Mukhina
  • , Stephan Rusch
  • , ESID Registry Working Party
  • Vrije Universiteit Brussel
  • Children’s Health Ireland
  • Styrian Children's Cancer Research Unit for Cancer and Inborn Errors of the Blood and Immunity in Children
  • Medical University of Graz
  • Medical University of Vienna
  • St. Anna Children's Cancer Research Institute
  • Center for Chronic Immunodeficiency (CCI)
  • Centre for Biobanking FREEZE
  • University of Freiburg
  • Russian Ministry of Health
  • Utrecht University

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Background: Inborn errors of immunity (IEI), or primary immune disorders (PIDs), predispose individuals to infections, autoimmunity, inflammation, allergy, and malignancy. Malignancies are a major cause of morbidity and mortality in patients with IEI/PIDs, with poorer outcomes compared with the general population. Objective: We sought to determine the frequency and types of malignancies in patients with IEI/PIDs and to assess clinical management approaches across Europe. Methods: Descriptive analyses were performed on malignancy data within each IEI category. In addition, a European Society for Immunodeficiencies Registry survey (05/2022-03/2024) collected data on management strategies and challenges. Results: Of 19,959 patients with IEI/PIDs, 1783 (8.9%) developed malignancies, of whom 27.1% presented malignancy as first manifestation of IEI/PIDs. A total of 1210 malignancies were specified; B-cell non-Hodgkin lymphoma was most common (24.2%). Detailed malignancy-IEI/PID association maps are provided. Predominantly antibody deficiencies accounted for 59.1% of malignancy cases, with a higher median age at first malignancy (43.6 years) compared with other IEI/PID categories, for example, combined immunodeficiencies with syndromic or associated features (11.7 years). Survey findings revealed that oncological treatment was modified because of IEI/PIDs in 21.5% of cases, with assumed negative impacts of IEI/PIDs on complications and outcomes (in 27.4% and 30.7%, respectively). IEI/PIDs influenced transplant decisions in 16.5% of cases. Management practices such as interdisciplinary decision finding and guideline availability were recorded. Conclusions: This study provides comprehensive epidemiological data on malignancies in IEI/PIDs, highlighting the need for tailored screening and management. Survey results emphasize the real-world challenges and support the development of IEI/PID-specific oncological surveillance guidelines and treatment strategies.
Original languageEnglish
JournalJournal of allergy and clinical immunology
Early online date2025
DOIs
Publication statusE-pub ahead of print - 2025

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • ESID registry
  • Inborn errors of immunity (IEI)
  • cancer predisposition syndromes
  • malignancy
  • primary immune disorder (PID)
  • primary immunodeficiency (PID)
  • tumor predisposition

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