Emerging insights into mosaic errors of immunity. [Review]

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All Authors

Roosens, W.
Demeulemeester, J.
Legius, E.
Savic, S.
Schrijvers, R.

LTHT Author

Savic, Sinisa

LTHT Department

Pathology
Clinical Immunology & Allergy

Non Medic

Publication Date

2025

Item Type

Journal Article
Review

Language

Subject

Subject Headings

Abstract

Mosaic errors of immunity (MEI) encompass a group of immune disorders caused by somatic or gonosomal gene variants affecting hematopoiesis and immune function. Although the causal role of mosaicism in monogenic immune disorders has been recognized for over two decades, our understanding of their pathogenesis, genotype-phenotype correlation and clonal evolution remains poor. In this review, we synthesize shared and distinct molecular determinants from the currently recognized MEI and provide a mechanistic framework for future research. Exploring the implications of mosaic genetic variation in patients with unexplained immune disorders could uncover novel, actionable genetic disorders. Moreover, the study of these rare 'experiments of nature' may shed light on cell-specific immune pathways, non-malignant clonal dynamics, and mosaic disorders more broadly.

Journal

Trends in Immunology

URI

https://hdl.handle.net/20.500.14838/1527

DOI

https://dx.doi.org/10.1016/j.it.2025.09.003

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