Primary immunodeficiency disease (PIDD) comprises a group of more than 450 inborn errors of immunity, which can leave patients at risk for severe infection, increased susceptibility to burdensome clinical manifestations, and lifelong impairment. PIDD can appear at any age, but the more severe forms of disease are usually seen in infancy or early childhood. Thus, pediatric clinicians are in a unique position to recognize and manage PIDD in patients presenting with unusual and/or recurrent infections. Earlier recognition is critical, as the time between symptom onset to diagnosis of PIDD takes an average of 12 years in the United States, exposing patients to multiple infections, health deterioration, organ damage, and increased mortality. Fortunately, with appropriate treatment, patients can ultimately lead normal and productive lives.
In this CME Outfitters live symposium, expert faculty discuss pediatric patient cases that illustrate the timely assessment of telltale signs and symptoms indicative of an underlying immunologic deficiency. A multidisciplinary approach to management is explored, including when to refer, the role of evidence-based treatments, and long-term monitoring.