1 Department of Pediatrics, Devision of Infectious Diseases, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri 63110
2 Department of Pathology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri 63110
3 Department of Pediatrics and Medicine, Division of Medical Genetics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri 63110
A 5-month-old female with agammaglobulinemia, thymic dysplasia, ectodermal dysplasia, and an erythematous icthyosiform dermatitis has been presented. Death at 7 months of age was the result of pneumocystis carinii pneumonia. The association of a broadly based immunologic deficit with ectodermal defects noted at birth lends support to the concept that a basic genetic abnormality may disturb the development of a number of mesenchymal components. It also suggests that skeletal anomalies are not invariably associated with the immunologic and ectodermal defects.