Evaluation and Treatment of Children with Primary Immune Deficiency in the Emergency Department

The potential for morbidity and mortality in an ill child with primary immune deficiency (PID) is extremely high. It is estimated that there are more than 500,000 cases of PID in the United States and an incidence of up to 1 in 2000 live births. Although the increased outpatient care of these patients necessitates a standardized approach to maximize emergent treatment, the diversity of these rare diseases and their potential infectious, autoimmune, and malignant sequelae complicate treatment guidelines. We present an overview of the clinical characteristics of primary immune deficiencies and then describe unique aspects of emergent care for these complex patients. Conservative management with empiric antimicrobials, early and aggressive surgical debridement of abscesses, and admission at a tertiary pediatric care center are often indicated. Familiarity with the clinical manifestations of PID and collaboration with a pediatric immunologist are prerequisites for optimal emergent care of these complex patients.

Keywords: pediatric primary immune deficiency, pediatric emergency department, hypogammaglobulinemia, chronic granulomatous disease, DiGeorge syndrome, severe combined immune deficiency