# Are inborn errors of immunity being investigated in the pediatric intensive care unit?

## TL;DR

This study finds that few children in the ICU with warning signs of immune disorders are tested for these conditions, especially younger children, leading to higher death rates.

## Contribution

The study highlights missed diagnostic opportunities for inborn errors of immunity in PICU patients, particularly in younger children.

## Key findings

- Only 20.4% of children under one year with two or more warning signs were investigated for IEI.
- Children under one year with warning signs had a 58.8% death rate, the highest observed in the study.
- Children over one year with warning signs were more likely to be investigated for IEI (43.8%).

## Abstract

To assess the frequency of diagnostic investigation for inborn errors of immunity (IEI) in the presence of warning signs and clinical outcomes of children hospitalized in the pediatric intensive care unit (PICU) according to age group.

This retrospective cross-sectional study included children hospitalized in the PICU of a referral hospital over two years. Warning signs were collected according to age group (up to and over one year), and sociodemographic and clinical variables, basic investigation of IEI, follow-up by the immunology service, and hospital discharge and death were also assessed.

Of 680 included children, 330 (48.5%) were aged up to one year, and 350 (51.5%) were over one year. Among those aged up to one year, 108 (32.7%) had two or more warning signs, and only 22 (20.4%) were investigated for IEI. Considering the group aged over one year, 48 (13.7%) had two or more warning signs, and 21 (43.8%) were investigated for IEI. The highest number of deaths occurred among children aged up to one year with two or more warning signs (58.8%).

Few children with warning signs were investigated for IEI, representing missed opportunities to timely diagnose IEI, which may impact the risk of death.