Snapshot A 3-year-old boy is brought to his pediatrician with scraped knees. He had been playing and slipped, scraping his knees on the asphalt. His knees are severely infected, with visible pus. He has a history of bleeding gums and easy bruisability. On physical exam, he is febrile, his retina is noted to be pale, and his hair is very blonde. In fact, some parts of his hair are noted to be silver. He is started on broad-spectrum antibiotics. Introduction Primary immunodeficiency from problems with phagocytosis Genetics login to view 2 more bullets Pathogenesis login to view 3 more bullets Symptoms arise in childhood Presentation Symptoms login to view 15 more bullets Evaluation Diagnosis with light microscopy of peripheral blood smear login to view 1 more bullet Bone marrow smear login to view 1 more bullet CBC showing pancytopenia Mild coagulation defects login to view 1 more bullet Differential Diagnosis Leukocyte adhesion deficiency Hyper IgM syndrome Treatment Early treatment is important Bone marrow transplant Treat infections as needed Prognosis, Prevention, and Complications Prognosis login to view 3 more bullets Complications login to view 1 more bullet