Bridging the gap: neurodevelopmental disorder risks in inborn errors of immunity.

Area of Science:

• Immunology
• Neuroscience
• Genetics

Background:

• Inborn errors of immunity (IEI) are a diverse group of genetic disorders affecting the immune system.
• Non-immune comorbidities, including neurological conditions, are increasingly recognized in patients with IEI.
• Neurodevelopmental disorders (NDDs) are less frequently described in association with IEI compared to other neurological signs.

Purpose of the Study:

• To review published literature on neurodevelopmental phenotypes in patients with IEI.
• To explore the interplay between the immune system and the central nervous system in the context of IEI.
• To discuss the implications of immune-CNS interactions for clinical management.

Main Methods:

• Systematic review of published clinical reports and case descriptions of IEI.
• Analysis of documented neurodevelopmental outcomes in patients with diagnosed IEI.
• Literature search for studies reporting comorbid NDDs in IEI cohorts.

Main Results:

• An increasing number of reports indicate a comorbidity between IEI and NDDs.
• Specific NDDs identified include autism spectrum disorder (ASD), intellectual disability, and behavioral deficits.
• The prevalence of NDDs in IEI remains unknown, suggesting potential underdiagnosis.

Conclusions:

• IEI patients exhibit a range of NDDs, which are often under-recognized.
• Early identification and intervention for NDDs in IEI are crucial for improving quality of life and reducing healthcare burden.
• Further research into the pathomechanisms underlying immune-CNS interactions in IEI is warranted to guide clinical practice.