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

Area of Science:

• Pediatric critical care medicine
• Clinical immunology
• Genetic and rare diseases

Background:

• Inborn errors of immunity (IEI) are a group of genetic disorders that affect the immune system.
• Early diagnosis and treatment of IEI are crucial for improving patient outcomes and reducing mortality.
• Children admitted to the pediatric intensive care unit (PICU) with warning signs may have undiagnosed IEI.

Purpose of the Study:

• To determine the frequency of diagnostic investigation for IEI in children hospitalized in the PICU who present with warning signs.
• To analyze the relationship between age group, warning signs, IEI investigation, and clinical outcomes, including death.

Main Methods:

• A retrospective cross-sectional study was conducted on children admitted to a referral hospital's PICU over two years.
• Data collected included sociodemographic and clinical variables, presence of IEI warning signs (categorized by age: up to and over one year), IEI investigations, immunology follow-up, and discharge status (alive or deceased).

Main Results:

• Out of 680 children, 330 were under one year and 350 were over one year.
• In children under one year, 32.7% had ≥2 warning signs, but only 20.4% were investigated for IEI.
• In children over one year, 13.7% had ≥2 warning signs, and 43.8% were investigated for IEI. Mortality was highest in infants under one year with ≥2 warning signs (58.8%).

Conclusions:

• Diagnostic investigation for IEI in children with warning signs in the PICU is infrequent.
• There are missed opportunities for timely IEI diagnosis in critically ill children, potentially contributing to adverse outcomes.
• Increased vigilance and investigation for IEI in high-risk pediatric patients are warranted to reduce mortality.