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

The aim of this review is to examine published reports of neurodevelopmental phenotypes in patients with inborn errors of immunity (IEI). We briefly discuss potential interactions between the immune and the central nervous system and the implications of this crosstalk for current clinical management guidelines.

An increasing number of reports have described neurodevelopmental disorders (NDDs) comorbid with immune-mediated signs. However, the prevalence of this association in IEIs remains unknown.

IEIs comprise a group of clinically heterogeneous disorders associated with a number of nonimmune comorbidities. Although certain neurological conditions such as microcephaly are recognized as associated features of some IEIs, NDDs are less well described. We reviewed published clinical descriptions of IEIs and found a number of comorbid NDDs in these patients, including autism spectrum disorder (ASD), behavioral deficits, and intellectual disability. Given the lack of uniform assessments for NDDs, we suspect they may be underdiagnosed in IEIs. As NDDs manifest early and can result in life-long cognitive and emotional deficits, which diminish quality of life and increase healthcare utilization, we hope to elucidate relevant pathomechanisms and raise clinician awareness of these comorbidities so appropriate and timely interventions are sought.