Snapshot A 3-year-old boy is brought to the clinic by his mother due to a severe ear infection. She is upset because he just recovered from one about two months ago. On exam, he has multiple telangiectasias on his face and walks with difficulty. On further questioning, his mother reveals that though he has learned to walk at 1 year of age he instead has not improved steadily like his older sister, but seems to have regressed. He is clumsy when walking and his trunk seems unstable. Introduction Primary immunodeficiency of B and T cells Pathogenesis login to view 4 more bullets Genetics login to view 1 more bullet To remember: 4A's login to view 4 more bullets Presentation Symptoms login to view 4 more bullets Physical exam login to view 7 more bullets Evaluation Serologies login to view 3 more bullets Labs login to view 1 more bullet Imaging login to view 1 more bullet Differential Cerebral palsy Friedreich ataxia Gaucher disease or Niemann-Pick diease Treatment Rehab for ataxia For recurrent infections login to view 2 more bullets Prognosis, Prevention, and Complications Prognosis login to view 3 more bullets Complications login to view 2 more bullets