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September 10, 2025

Epidemiology and Management of Malignancies in Patients with Inborn Errors of Immunity - An ESID Registry Study of 19,959 Patients

Key Points

Of 19,959 patients with inborn errors of immunity, 1,783 (8.9%) developed malignancies, indicating a higher prevalence than the general population.
B-cell non-Hodgkin lymphoma was identified as the most common malignancy type, accounting for 24.2% of cases among patients with immunodeficiencies.
Predominantly antibody deficiencies were linked to 59.1% of malignancy cases, highlighting the importance of specific management strategies for these patients.
IEI/PID influenced treatment decisions in over 21% of cases, suggesting complex interplay between oncology and immunodeficiency management.

Abstract

Background: Inborn errors of immunity (IEI), or primary immune disorders (PID), predispose individuals to infections, autoimmunity, inflammation, allergy, and malignancy. Malignancies are a major cause of morbidity and mortality in IEI/PID patients, with poorer outcomes compared to the general population. Objectives: This European Society for Immunodeficiencies Registry (ESID-R) study aimed to determine the frequency and types of malignancies in IEI/PID patients and to assess clinical management approaches across Europe. Methods: Descriptive analyses were performed on malignancy data within each IEI category. Additionally, an ESID-R survey (05/2022-03/2024) collected data on management strategies and challenges. Results: Of 19,959 IEI/PID patients, 1,783 (8.9%) developed malignancies, of whom 27.1% presented malignancy as first manifestation of IEI/PID. A total of 1,210 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 to other categories, e.g., combined immunodeficiencies with syndromic or associated features (11.7 years). Survey findings revealed oncological treatment was modified due to IEI/PID in 21.5% of cases, with assumed negative impacts of IEI/PID on complications and outcomes (in 27.4% and 30.7%, respectively). IEI/PID influenced transplant decisions in 16.5% of cases. Management practices like interdisciplinary decision finding and guideline availability were recorded. Conclusion: This study provides comprehensive epidemiological data on malignancies in IEI/PID, highlighting the need for tailored screening and management. Survey results emphasize the real-world challenges and support the development of IEI/PID-specific oncologic surveillance guidelines and treatment strategies.

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