Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.
Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.
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DOI：
10.4274/tjh.galenos.2020.2020.0334
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发表时间：
2020-11-19
期刊：
影响因子：
--
通讯作者：
İkincioğulları A
中科院分区：
文献类型：
--
作者：
Haskoloğlu Ş;Öztürk A;Öztürk G;Kostel Bal S;İslamoğlu C;Baskın K;Ceylaner S;Tufan Satıroğlu L;Doğu F;İkincioğulları A
Wiskott-Aldrich综合征(Wiskott-Aldrich综合征)是一种X连锁的原发免疫缺陷，以微血小板减少症、湿疹和反复感染为特征。我们的目标是评估AS队列的临床特征和结果。我们回顾了1982年至2019年共23例IS患者的临床病程、免疫学特征、治疗和结果，以及其中11例移植病例的相关数据。入院前有11例(48%)被误诊为免疫性血小板减少症。IS评分多为4~5分。移植11例，中位随访时间8.5年(8个月~20年)，总存活率为100%。5例未移植的患者死亡时间中位数为7年(范围2-26年)。非移植患者因器官损害的发病率较高，主要由自身免疫、出血和感染引起。还定义了两个新的突变。所有患有微血小板减少症的男婴都应评估是否患有微血小板减少症。造血干细胞移植应该在最早的年龄进行，并尽可能选择最好的捐赠者。
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency characterized by microthrombocytopenia, eczema, and recurrent infections. We aimed to evaluate the clinical features and outcomes of a WAS cohort. We retrospectively evaluated the clinical courses, immunological features, treatments, and outcomes in a total of 23 WAS patients together with data related to 11 transplanted cases among them between 1982 and 2019. Before admission, 11 patients (48%) were misdiagnosed with immune thrombocytopenia. WAS scores were mostly 4 or 5. Eleven patients were transplanted and they had an overall survival rate of 100% during a median follow-up period of 8.5 years (range: 8 months to 20 years). Five patients who were not transplanted died at a median of 7 years (range: 2-26 years). Nontransplanted patients had high morbidity due to organ damage, mostly caused by autoimmunity, bleeding, and infections. Two novel mutations were also defined. All male babies with microthrombocytopenia should be evaluated for WAS. Hematopoietic stem cell transplantation should be performed at the earliest age with the best possible donors.
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