Division of Immunology and Allergy, University Hospital of Lausanne, Lausanne, Switzerland.
IAL, CHUV, BH10.527, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
J Clin Immunol. 2018 Jan;38(1):13-27. doi: 10.1007/s10875-017-0453-z. Epub 2017 Oct 30.
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease characterized by infections, bleeding tendency, and eczema. Today, it is well recognized that the syndrome has a wide clinical spectrum ranging from mild, isolated thrombocytopenia to full-blown presentation that can be complicated by life-threatening hemorrhages, immunodeficiency, atopy, autoimmunity, and cancer. The pathophysiology of classic and emerging features is being elucidated by clinical studies, but remains incompletely defined, which hinders the application of targeted therapies. At the same time, progress of hematopoietic stem cell transplantation and gene therapy offer optimistic prospects for treatment options aimed at the replacement of the defective lymphohematopoietic system that have the potential to provide a cure for this rare and polymorphic disease.
Wiskott-Aldrich 综合征（WAS）是一种罕见的 X 连锁疾病，最初由 Alfred Wiskott 博士于 1937 年和 Robert Aldrich 博士于 1954 年描述为一种家族性疾病，其特征为感染、出血倾向和湿疹。如今，人们已经充分认识到该综合征具有广泛的临床谱，从轻微的孤立性血小板减少症到全血细胞减少症，严重时可能会出现危及生命的出血、免疫缺陷、特应性、自身免疫和癌症。临床研究正在阐明经典和新兴特征的病理生理学，但仍未完全定义，这阻碍了靶向治疗的应用。与此同时，造血干细胞移植和基因治疗的进展为针对缺陷淋巴造血系统的治疗方法提供了乐观的前景，这些方法有可能为这种罕见的多态性疾病提供治愈方法。
