TY - CHAP M1 - Book, Section TI - B Cell Immunodeficiencies A1 - Subramanian, Ahila A1 - Schroer, Brian A2 - Usatine, Richard P. A2 - Sabella, Camille A2 - Smith, Mindy Ann A2 - Mayeaux, E.J. A2 - Chumley, Heidi S. A2 - Appachi, Elumalai Y1 - 2015 N1 - T2 - The Color Atlas of Pediatrics AB - A 13-month-old boy is hospitalized with high fever, cough, and decreased oral intake. Diagnostic work up reveals pneumococcal pneumonia (Figure 218-1). He responds well to intravenous and oral antibiotic treatment with complete resolution of symptoms. His birth history is unremarkable with a normal full-term delivery and birth weight (3.3kg). At 4 months of age, he developed otitis media successfully treated with oral antibiotics. Since then he has had numerous upper respiratory and ear infections. At 8 months of age, he was hospitalized for treatment of Staphylococcus aureus cellulitis. Each infection responded well to short courses of antibiotic therapy. He has received all scheduled immunizations up to 12 months. Physical exam reveals a pale, thin child who is below the 3rd percentile for height and weight. He has normal features and developmental milestones. Further family history reveals a maternal uncle with similar symptoms in childhood. Immunologic work up is notable for severe hypogammaglobulinemia and low antibody vaccine titers. Genetic testing for BTK mutation confirms the diagnosis of X-Linked Agammaglobulinemia (XLA). Treatment with intravenous immunoglobulin replacement is started for management of antibody deficiency. Over the next 12 months, the boy has a significant decrease in infections and is noted to have improved growth. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1114880455 ER -