Snapshot A 3-year-old boy is brought to the pediatrician’s office for an ear infection. He has had multiple upper respiratory, ear, and skin infections since 6 months of age. He has required inpatient admissions to the pediatric ward twice for intravenous antibiotics. On physical exam, he has no tonsils and has no history of tonsillectomy. Levels of IgG, IgM, and IgA are decreased. Genetic testing is sent to confirm the diagnosis. Introduction Clinical definition login to view 1 more bullet Epidemiology Demographics login to view 1 more bullet etiology Pathogenesis login to view 5 more bullets Genetics login to view 2 more bullets Presentation Symptoms login to view 6 more bullets Physical exam login to view 2 more bullets Studies Diagnostic testing login to view 4 more bullets Differential Severe combined immunodeficiency login to view 3 more bullets Transient hypogammaglobulinemia of infancy login to view 2 more bullets DIAGNOSIS Diagnostic criteria login to view 1 more bullet Treatment Management approach login to view 1 more bullet First-line login to view 1 more bullet Complications Small risk of malignancy Prognosis Normal prognosis with regular intravenous immunoglobulin (IVIG) therapy and early detection