Epidemiology and management of malignancies in patients with inborn errors of immunity—An ESID registry study of 19,959 patients
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
- Department of Paediatrics
- Institute of Clinical Genetics
- Department of Anesthesiology and Intensive Care Medicine
- Department of Psychiatry and Psychotherapy
- Department of Paediatrics, Division of Neuropediatrics
- Vrije Universiteit Brussel
- Our Lady's Hospital for Sick Children
- Medical University of Graz
- Medical University of Vienna
- St. Anna Children's Cancer Research Institute
- University Medical Center Freiburg
- University of Freiburg
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.
Details
| Original language | English |
|---|---|
| Pages (from-to) | 739-753 |
| Number of pages | 15 |
| Journal | Journal of allergy and clinical immunology |
| Volume | 157 |
| Issue number | 3 |
| Early online date | 14 Nov 2025 |
| Publication status | Published - Mar 2026 |
| Peer-reviewed | Yes |
External IDs
| PubMed | 41242640 |
|---|---|
| ORCID | /0009-0003-6519-0482/work/203813553 |
| ORCID | /0000-0001-6313-4434/work/203814407 |
Keywords
Sustainable Development Goals
ASJC Scopus subject areas
Keywords
- cancer predisposition syndromes, ESID registry, Inborn errors of immunity (IEI), malignancy, primary immune disorder (PID), primary immunodeficiency (PID), tumor predisposition