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Blood, 1 August 2001, Vol. 98, No. 3, pp. 880-882
BRIEF REPORT
Association of the Q576R polymorphism in the interleukin-4
receptor  chain with indolent mastocytosis limited to the
skin
Trisha Daley,
Dean D. Metcalfe, and
Cem Akin
From the Laboratory of Allergic Diseases, National
Institute of Allergy and Infectious Diseases, National Institutes of
Health, Bethesda, Maryland.
Gain-of-function mutations in c-kit, which appear to
contribute to mast cell hyperplasia, have been detected in both limited and aggressive forms of mastocytosis, suggesting that other mutations or polymorphisms may contribute to the clinical phenotype. Because addition of interleukin-4 (IL-4) to mast cell cultures is reported to
induce apoptosis, the hypothesis was considered that individuals carrying the gain-of-function polymorphism Q576R in the cytoplasmic domain of the  -subunit of the IL-4 receptor (IL-4R) might be relatively resistant to the gain-of-function mutation in
c-kit. To assess this possibility, 36 patients with either
cutaneous or systemic mastocytosis were studied for association with
the Q576R polymorphism. The Q576R polymorphism was found more
frequently in those with disease limited to skin and who exhibited
lower levels of surrogate disease markers. These data suggest that the Q576R IL-4R - chain polymorphism may mitigate disease expression and
confer a better prognosis in patients with mastocytosis.
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