Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.

@article{citeulike:2961788, abstract = {BACKGROUND: 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. METHODS: We studied 30 patients with the hyper-IgE syndrome and 70 of their relatives. We took histories, reviewed records, performed physical and dental examinations, took anthropometric measurements, and conducted laboratory studies. RESULTS: Nonimmunologic features of the hyper-IgE syndrome were present in all patients older than eight years. Seventy-two percent had the previously unrecognized feature of failure or delay of shedding of the primary teeth owing to lack of root resorption. Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis (in 76 percent of patients 16 years of age or older). The classic triad of abscesses, pneumonia, and an elevated IgE level was identified in 77 percent of all patients and in 85 percent of those older than eight. In 6 of 23 adults (26 percent), IgE levels declined over time and came closer to or fell within the normal range. Autosomal dominant transmission of the hyper-IgE syndrome was found, but with variable expressivity. Of the 27 relatives at risk for inheriting the hyper-IgE syndrome, 10 were fully affected, 11 were unaffected, and 6 had combinations of mild immunologic, dental, and skeletal features of the hyper-IgE syndrome. CONCLUSIONS: The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system. It is inherited as a single-locus autosomal dominant trait with variable expressivity.}, address = {Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4442, USA.}, author = {Grimbacher, B. and Holland, S. M. and Gallin, J. I. and Greenberg, F. and Hill, S. C. and Malech, H. L. and Miller, J. A. and O'Connell, A. C. and Puck, J. M. }, citeulike-article-id = {2961788}, issn = {0028-4793}, journal = {The New England journal of medicine}, keywords = {hige}, month = {March}, number = {9}, pages = {692--702}, posted-at = {2008-07-19 23:12:24}, priority = {2}, title = {Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/10053178}, volume = {340}, year = {1999} }

TY - JOUR ID - citeulike:2961788 L3 - citeulike-article-id:2961788 TI - Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. JF - The New England journal of medicine VL - 340 IS - 9 SP - 692 EP - 702 AD - Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4442, USA. SN - 0028-4793 N2 - BACKGROUND: 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. METHODS: We studied 30 patients with the hyper-IgE syndrome and 70 of their relatives. We took histories, reviewed records, performed physical and dental examinations, took anthropometric measurements, and conducted laboratory studies. RESULTS: Nonimmunologic features of the hyper-IgE syndrome were present in all patients older than eight years. Seventy-two percent had the previously unrecognized feature of failure or delay of shedding of the primary teeth owing to lack of root resorption. Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis (in 76 percent of patients 16 years of age or older). The classic triad of abscesses, pneumonia, and an elevated IgE level was identified in 77 percent of all patients and in 85 percent of those older than eight. In 6 of 23 adults (26 percent), IgE levels declined over time and came closer to or fell within the normal range. Autosomal dominant transmission of the hyper-IgE syndrome was found, but with variable expressivity. Of the 27 relatives at risk for inheriting the hyper-IgE syndrome, 10 were fully affected, 11 were unaffected, and 6 had combinations of mild immunologic, dental, and skeletal features of the hyper-IgE syndrome. CONCLUSIONS: The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system. It is inherited as a single-locus autosomal dominant trait with variable expressivity. KW - hige AU - Grimbacher, B AU - Holland, SM AU - Gallin, JI AU - Greenberg, F AU - Hill, SC AU - Malech, HL AU - Miller, JA AU - O'Connell, AC AU - Puck, JM PY - 1999/03/04/ UR - http://view.ncbi.nlm.nih.gov/pubmed/10053178 ER -