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

1999; Massachusetts Medical Society; Volume: 340; Issue: 9 Linguagem: Inglês

10.1056/nejm199903043400904

1533-4406

Bodo Grimbacher, Steven M. Holland, John I. Gallin, Frank Greenberg, Suvimol Hill, Harry L. Malech, Judith Miller, Anne C. O’Connell, Jennifer M. Puck,

Immune Cell Function and Interaction

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.