A MULTIINSTITUTIONAL SURVEY OF THE WISKOTT-ALDRICH SYNDROME
A MULTIINSTITUTIONAL SURVEY OF THE WISKOTT-ALDRICH SYNDROME
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DOI：
10.1016/s0022-3476(05)82002-5
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发表时间：
1994-12-01
影响因子：
5.1
通讯作者：
WINKELSTEIN, JA
中科院分区：
文献类型：
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作者：
SULLIVAN, KE;MULLEN, CA;WINKELSTEIN, JA
Wiskott-Aldrich综合征是一种X-连锁原发性免疫缺陷病，最初以血小板减少症、湿疹和免疫缺陷三联征为特征。我们收集了154例Wiskott-Aldrich综合征患者的临床和实验室信息，以更好地确定这种疾病的临床表现。血小板减少症伴小血小板、复发性中耳炎和湿疹的典型三联征仅见于27%的研究人群; 5%的研究人群在诊断前仅具有感染表现，20%的研究组在诊断前仅具有血液学表现。免疫学评估的结果从一个患者到另一个患者变化并且疾病的过程变化巨大，即使在单一的家族中，我们得出结论，许多Wiskott-Aldrich综合征患者具有非典型表现，并且通常需要一组诊断测试来建立诊断，在研究人群中确定了两个高风险亚组：诊断时血小板计数< 10 × 10（9）/L（<10，000/mm（3））的患者出血风险高，自身免疫性疾病患者患恶性肿瘤的风险增加，
The Wiskott-Aldrich syndrome is an X-linked primary immunodeficiency originally characterized by the clinical triad of thrombocytopenia, eczema, and immunodeficiency, We collected clinical and laboratory information on 154 unselected patients with Wiskott-Aldrich syndrome to define better the clinical expression of this disorder. The classic triad of thrombocytopenia with small platelets, recurrent otitis media, and eczema was seen in only 27% of the study population; 5% of the study population had only infectious manifestations, and 20% of the study group had only hematologic manifestations before diagnosis, The results of immunologic evaluations varied from one patient to another and the course of the disorder varied tremendously, even within a single kindred, We conclude that many patients with Wiskott-Aldrich syndrome have an atypical presentation and that a panel of diagnostic tests is often required to establish the diagnosis, Two high-risk subgroups were identified in the study population: patients with platelet counts < 10 X 10(9)/L (< 10,000/mm(3)) at the time of diagnosis were at high risk of bleeding, and patients with autoimmune disorders were at increased risk of having a malignancy,