Epidemiology and Management of Malignancies in Patients with Inborn Errors of Immunity - An ESID Registry Study of 19,959 Patients
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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.
Clinical Implications
Overall, ca. 9% of IEI/PID patients develop malignancies —often as first presentation and highly varying between IEI/PID categories— most commonly B-cell non-Hodgkin lymphoma. High oncological treatment modification rates highlight the need for IEI/PID-specific cancer surveillance and interdisciplinary management strategies.
Capsule Summary
This large ESID-R study quantifies malignancy burden in IEI/PID, identifies disease-specific patterns, and reveals management modifications and challenges, underscoring the urgent need for dedicated oncologic surveillance guidelines and tailored treatment strategies in this vulnerable population.
