More than just infections: an update on primary immune deficiencies

The general pediatrician should be empowered to utilize continuity of care for the recognition of unusual or severe patterns of infection. With the burgeoning field of genetics, primary immune deficiencies (PIDs) can be diagnosed and treated earlier to provide better outcomes for patients and families. Improved treatment modalities have redefined expectations for many infants born with PIDs.

The prevalence of PIDs increases as researchers discover novel immunodeficiency syndromes and as clinicians increasingly recognize and diagnose nuanced presentations of immunodeficiency. Novel immunodeficiency syndromes associated with mutations in DOCK8, CARD9, and PRKDC recently have been described. For the first time in the United States, newborns from an entire state were screened for lymphopenia, allowing potentially life-saving early diagnosis of the most severe forms of PID before the onset of symptoms. Hematopoietic stem cell transplantation (HSCT) and gene therapy continue to be evaluated as curative treatments with increasing success rates for some of the most severe PIDs.

The field of PID continues to expand and advancements have been made in earlier diagnosis and screening. Comparative effectiveness research into treatment modalities offered to patients with PID is leading to a better understanding of optimal therapies for specific PIDs. In the meantime, the advocacy efforts of established and emerging PID networks promote excellence in clinical recognition and treatment of PIDs in children.