Standen G R, Orchard J A, Hutton R D
University of Wales College of Medicine, Health Park, Cardiff.
Br J Clin Pract. 1990 Aug;44(8):338-9.
Monozygotic twin males with an attenuated variant of the Wiskott-Aldrich syndrome (WAS) are described. Diagnostic features included moderate thrombocytopenia with small platelet size and abnormal platelet aggregation responses, chronic eczema, depressed serum IgM and low isoagglutinin titre. Splenectomy was performed on one twin at age seven years who survived a complicating pneumococcal septicaemia ten days after the procedure, but who succumbed to fulminating infection three years later. The importance of recognising the attenuated variants of WAS is discussed.
本文描述了一对患有威斯科特-奥尔德里奇综合征（WAS）弱化变体的单卵双胞胎男性。诊断特征包括中度血小板减少伴小血小板尺寸和异常血小板聚集反应、慢性湿疹、血清IgM降低和低同种凝集素滴度。其中一名双胞胎在7岁时接受了脾切除术，术后10天因肺炎球菌败血症并发症存活下来，但3年后死于暴发性感染。文中讨论了认识WAS弱化变体的重要性。
