{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:16:24Z","timestamp":1790748984643,"version":"4.1.0"},"reference-count":14,"publisher":"American Society of Hematology","issue":"3","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 \u03b1-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 \u03b1- chain polymorphism may mitigate disease expression and confer a better prognosis in patients with mastocytosis.<\/jats:p>","DOI":"10.1182\/blood.v98.3.880","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T12:46:47Z","timestamp":1027774007000},"page":"880-882","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":41,"title":["Association of the Q576R polymorphism in the interleukin-4 receptor \u03b1 chain with indolent mastocytosis limited to the skin"],"prefix":"10.1182","volume":"98","author":[{"given":"Trisha","family":"Daley","sequence":"first","affiliation":[{"name":"From the Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean D.","family":"Metcalfe","sequence":"additional","affiliation":[{"name":"From the Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cem","family":"Akin","sequence":"additional","affiliation":[{"name":"From the Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021300091414200_B1","doi-asserted-by":"crossref","first-page":"15S","DOI":"10.1111\/1523-1747.ep12468942","article-title":"Pediatric mastocytosis.","volume":"96","author":"Kettelhut","year":"1991","journal-title":"J Invest 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expression of Kit and tryptase during stem cell factor-dependent development of human mast cells from fetal liver cells.","volume":"84","author":"Nilsson","year":"1994","journal-title":"Blood."},{"key":"2020021300091414200_B10","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1056\/NEJM199712113372403","article-title":"The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor [see comments].","volume":"337","author":"Hershey","year":"1997","journal-title":"N Engl J Med."},{"key":"2020021300091414200_B11","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/S0091-6749(99)70082-5","article-title":"The R576 IL-4 receptor alpha allele correlates with asthma severity.","volume":"104","author":"Rosa-Rosa","year":"1999","journal-title":"J Allergy Clin Immunol."},{"key":"2020021300091414200_B12","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1034\/j.1399-0039.1999.540504.x","article-title":"The IL-4 receptor 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