Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder

摘要: Background The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by skin and pulmonary abscesses extremely elevated levels of IgE in serum. Associated facial skeletal features have been recognized, but their frequency unknown, the genetic basis poorly understood. Methods We studied 30 patients 70 relatives. took histories, reviewed records, performed physical dental examinations, anthropometric measurements, conducted laboratory studies. Results Nonimmunologic were present all older than eight years. Seventy-two percent had previously unrecognized feature failure or delay shedding primary teeth owing to lack root resorption. Common findings among fractures (in 57 patients), hyperextensible joints 68 percent), scoliosis 76 16 year...