Neuroimaging in inborn errors of immunity: More than infections.

PURPOSE: Inborn errors of immunity (IEIs) are a heterogeneous group of germline disorders whose recognition is increasing but which remain underdiagnosed and associated with significant pediatric morbidity and mortality. This review aims to systematize the main neuroimaging manifestations of IEIs, addressing how neuroradiologists can identify characteristic patterns to support earlier diagnosis and guide clinical management.

METHODS

A narrative review of IEIs with neurological involvement was performed, focusing on reported primary and secondary neuroimaging features across major IEI categories. Imaging findings were correlated with underlying immune defects, typical clinical phenotypes, and their impact on diagnostic workup, risk assessment, and genetic counseling.

RESULTS

IEIs demonstrate a broad neurological spectrum that extends beyond recurrent infections to encompass autoinflammatory, autoimmune, allergic, and malignant phenotypes with central nervous system involvement. Neuroimaging reveals both primary manifestations directly related to immune dysregulation and secondary features, allowing recognition of patterns in IEI subgroups that can provide crucial diagnostic clues in otherwise non-specific clinical scenarios.

CONCLUSION

Neurological involvement in IEIs is not uncommon and may be radiologically detectable, making imaging an important ancillary tool in their evaluation. Systematic recognition of primary and secondary neuroimaging features by neuroradiologists can raise suspicion for an underlying IEI, prompting appropriate immunologic and genetic work-up. Earlier diagnosis is crucial to enable timely implementation of preventive or targeted therapies, with the potential to improve long-term outcomes.