Inborn errors of immunity in children with neuroinflammation.

Area of Science:

• Pediatric Neurology
• Immunology
• Genetics

Background:

• Inborn errors of immunity (IEIs) are increasingly linked to neuroinflammatory diseases.
• Diverse IEIs, including Aicardi-Goutières syndrome and DADA2, manifest with neurological symptoms.
• Neuroinflammation can be the primary or sole presentation of IEIs in children.

Purpose of the Study:

• To review pediatric-onset neuroinflammatory phenotypes associated with IEIs.
• To provide practical frameworks for recognizing and investigating these conditions.
• To emphasize the importance of early diagnosis for improved outcomes.

Main Methods:

• Literature review of IEIs and neuroinflammation in pediatric populations.
• Analysis of clinical manifestations and diagnostic approaches.
• Synthesis of current knowledge on immunotherapies and neurological outcomes.

Main Results:

• IEIs encompass a range of monogenic disorders presenting with neuroinflammation.
• Neurological symptoms include encephalopathy, seizures, and CNS inflammatory lesions.
• Systemic autoinflammation/autoimmunity may suggest underlying IEI, but neuroinflammation can be isolated.

Conclusions:

• Early identification of neuroinflammatory IEIs is crucial for prompt diagnosis.
• Timely immunological and genetic investigations facilitate appropriate immunotherapies.
• Prompt intervention reduces the risk of long-term neurological sequelae in affected children.