c-kit mutation in a population of patients with mastocytosis

被引:65
作者
Nagata, H
Okada, T
Worobec, AS
Semere, T
Metcalfe, DD
机构
[1] NIAID,LAB ALLERG DIS,NIH,BETHESDA,MD 20892
[2] CHIBA UNIV,SCH MED,DEPT OTOLARYNGOL,CHIBA 260,JAPAN
[3] AICHI MED UNIV,DEPT PHYSIOL,AICHI,JAPAN
关键词
mast cells; mastocytosis; stem cell factor; c-kit;
D O I
10.1159/000237541
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
The c-kil Asp816Val activating mutation is found in all patients with mastocytosis with an associated hematologic disorder, and at least in a subset of patients with indolent mastocytosis. The case of an 11-month-old child is presented who was categorized as having indolent mastocytosis, and where the Asp816Val mutation was identified in lesional skin, but not in bone marrow or in peripheral blood mononuclear cell populations. The significance of these findings is discussed.
引用
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页码:184 / 186
页数:3
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