Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study
Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study
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DOI：
10.1182/blood-2009-08-239525
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发表时间：
2010-03-18
期刊：
影响因子：
20.3
通讯作者：
Teachey, David T.
中科院分区：
文献类型：
--
作者：
Seif, Alix E.;Manno, Catherine S.;Teachey, David T.
自身免疫性淋巴组织增生综合征（ALPS）是一种由Fas凋亡通路失调引起的淋巴细胞存活异常的疾病。ALPS的临床表现包括自身免疫性血细胞减少、器官肿大和淋巴结病。这些发现与Evans综合征（ES）重叠，其定义为存在至少2种自身免疫性血细胞减少症。我们假设一部分ES患者患有ALPS，并在22个机构对45名儿童进行了检测，测量了外周血双阴性T细胞（DNT）和Fas介导的细胞凋亡。ALPS在47%的患者中被诊断出来。显著升高的DNT（>= 5%）是ALPS的强预测因子（阳性预测值= 94%），而DNT低于2.5%的患者在细胞凋亡检测中没有ALPS。血细胞减少和免疫球蛋白水平升高的严重程度也预测ALPS。这是描述ES儿童的最大出版系列，并记录了儿科ES患者中ALPS的高发生率。这些数据表明，ES儿童应筛查ALPS与DNT。（血。2010;115：2142-2145）
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by dysregulation of the Fas apoptotic pathway. Clinical manifestations of ALPS include autoimmune cytopenias, organomegaly, and lymphadenopathy. These findings overlap with Evans syndrome (ES), defined by presence of at least 2 autoimmune cytopenias. We hypothesized a subset of patients with ES have ALPS and tested 45 children at 22 institutions, measuring peripheral blood double-negative T cells (DNTs) and Fas-mediated apoptosis. ALPS was diagnosed in 47% of patients tested. Markedly elevated DNTs (>= 5%) were a strong predictor of ALPS (positive predictive value = 94%), whereas no patients with DNTs less than 2.5% had ALPS on apoptosis testing. Severity of cytopenias and elevated immunoglobulin levels also predicted ALPS. This is the largest published series describing children with ES and documents a high rate of ALPS among pediatric ES patients. These data suggest that children with ES should be screened for ALPS with DNTs. (Blood. 2010;115:2142-2145)