Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder
Bodo Grimbacher(National Human Genome Research Institute), Steven M. Holland(National Institute of Allergy and Infectious Diseases), John I. Gallin(National Institute of Allergy and Infectious Diseases), Frank Greenberg(National Human Genome Research Institute), Suvimol Hill(Cardinal Glennon Children’s Medical Center), Harry L. Malech(National Institute of Allergy and Infectious Diseases), Judith Miller(National Institute of Allergy and Infectious Diseases), Anne C. O’Connell(National Institute of Dental and Craniofacial Research), Jennifer M. Puck(National Human Genome Research Institute)
Cited by 794Open Access
Abstract
The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum. Associated facial and skeletal features have been recognized, but their frequency is unknown, and the genetic basis of the hyper-IgE syndrome is poorly understood.
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