The Interleukin-4 Receptor Variant Q576R in Hyper-IgE Syndrome

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Abstract
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 α 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 the interleukin-4 receptor alleles in normal subjects, but it was significantly more common among patients with severe atopic disease.