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Previous Volume 338:1073-1074 April 9, 1998 Number 15 Next

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To the Editor: The hyper-IgE recurrent-infection syndrome (Online Mendelian Inheritance in Man no. 243700), also called Job's syndrome, is a rare immunodeficiency disorder that is characterized by recurrent staphylococcal skin abscesses, pneumonia, and elevated serum IgE concentrations (>2000 IU per milliliter).^1,2 The known involvement of the interleukin-4 pathway in atopy and IgE isotype switching³ led Hershey et al. (Dec. 11 issue)⁴ to search for mutations in the subunit of the interleukin-4 receptor. All three of their patients with the hyper-IgE syndrome were heterozygous for an interleukin-4 receptor variant allele (Q576R). The Q576R mutation was also found in 10 percent of . . . [Full Text of this Article]

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• Grimbacher, B., Holland, S. M., Gallin, J. I., Greenberg, F., Hill, S. C., Malech, H. L., Miller, J. A., O'Connell, A. C., Puck, J. M. (1999). Hyper-IgE Syndrome with Recurrent Infections -- An Autosomal Dominant Multisystem Disorder. NEJM 340: 692-702 [Abstract] [Full Text]  
• Mitsuyasu, H., Yanagihara, Y., Mao, X.-Q., Gao, P.-S., Arinobu, Y., Ihara, K., Takabayashi, A., Hara, T., Enomoto, T., Sasaki, S., Kawai, M., Hamasaki, N., Shirakawa, T., Hopkin, J. M., Izuhara, K. (1999). Cutting Edge: Dominant Effect of Ile50Val Variant of the Human IL-4 Receptor {alpha}-Chain in IgE Synthesis. J. Immunol. 162: 1227-1231 [Abstract] [Full Text]