What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency

Newborn screening for severe combined immunodeficiency has been implemented in all 50 states. This screening identifies newborns with T-cell lymphopenia. After an abnormal screening, additional testing is needed to determine if the child has severe combined immunodeficiency. Because screening programs vary, it is imperative for the clinical immunologist to understand how screening is done in their state and to prepare an effective assessment protocol for the management of these patients. Part of this assessment should include training and helping to ensure the effective delivery of this news to the family, a skill neither intuitive nor classically taught to immunologists.