# Neuroimaging in inborn errors of immunity: More than infections

## TL;DR

This review highlights how neuroimaging can help detect and diagnose inborn errors of immunity, which go beyond infections to include autoimmune and inflammatory conditions.

## Contribution

The paper systematically categorizes neuroimaging features of IEIs to aid earlier diagnosis and clinical management.

## Key findings

- IEIs show neurological manifestations beyond infections, including autoimmune and malignant features.
- Neuroimaging can reveal patterns specific to IEI subgroups, aiding in non-specific clinical scenarios.
- Early imaging recognition can prompt genetic testing and improve patient outcomes.

## Abstract

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.

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.

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.

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.