Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation
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DOI：
10.1182/blood-2010-08-301515
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发表时间：
2011-03-10
期刊：
影响因子：
20.3
通讯作者：
Mizutani, Shuki
中科院分区：
文献类型：
--
作者：
Takagi, Masatoshi;Shinoda, Kunihiro;Mizutani, Shuki
自身免疫淋巴增殖性综合征(ALPS)经典定义为Fas介导的细胞凋亡缺陷(I-III型)。新近在IV型阿尔卑斯山中发现了胚系NRAS突变。我们报告2例伴有体细胞KRAS突变的阿尔卑斯样疾病。两例均以显著的自身免疫性细胞减少和淋巴腺病/脾肿大为特征。这些患者不符合阿尔卑斯病或幼年性单核细胞白血病的诊断标准，可能被定义为RAS相关阿尔卑斯样疾病(RAD)的一个新的疾病实体。(血。2011；117(10)：2887-2890)
Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy the diagnostic criteria for ALPS or juvenile myelo-monocytic leukemia and are probably defined as a new disease entity of RAS-associated ALPS-like disease (RALD). (Blood. 2011; 117(10): 2887-2890)