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. 2025 Nov 14:S0091-6749(25)01126-1.
doi: 10.1016/j.jaci.2025.10.033. Online ahead of print.

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

Delfien J A Bogaert  1 , Christina H Wolfsberger  2 , Andishe Attarbaschi  3 , Jonathan Gathmann  4 , Klaus Warnatz  5 , Gabriele Mueller  6 , Anna Mukhina  7 , Stephan Rusch  4 ; ESID Registry Working Party; Gerhard Kindle  8 , Joris M van Montfrans  9 , Markus G Seidel  10
Collaborators, Affiliations
Free article

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

Delfien J A Bogaert et al. J Allergy Clin Immunol. .
Free article

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.

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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Conflict of interest statement

Disclosure statement This study was supported in part by Fund Princess Maxima Centre Belgium (managed by King Baudouin Foundation) (grant to D.J.A.B.) and Styrian Children’s Cancer Aid Foundation (Steirische Kinderkrebshilfe) (grant to M.G.S.; The Styrian Children’s Cancer Research Unit). Disclosure of potential conflict of interest: M. G. Seidel received advisory board/consultancy honoraria from Pharming and Takeda, unrelated to the study. The rest of the authors declare that they have no relevant conflicts of interest.

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