Sudhakar Murugan, Rikhi Rashmi, Loganathan Sathish Kumar, Suri Deepti, Singh Surjit
Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Appl Clin Genet. 2021 Aug 20;14:363-388. doi: 10.2147/TACG.S213920. eCollection 2021.
Wiskott-Aldrich syndrome (WAS) is an uncommon X-linked combined-immunodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. Patients with WAS are also predisposed to autoimmunity and malignancy. Autoimmune manifestations have been reported in 26%-72% of patients with WAS. Autoimmunity is an independent predictor of poor prognosis and predisposes to malignancy. Development of autoimmunity is also an early pointer of the need for hematopoietic stem-cell transplantation. In this manuscript, we have collated the published data and present a narrative review on autoimmune manifestations in WAS. A summary of currently proposed immunopathogenic mechanisms and genetic variants associated with development of autoimmunity in WAS is also included.
威斯科特-奥尔德里奇综合征（WAS）是一种罕见的X连锁联合免疫缺陷病，其特征为血小板减少、湿疹和免疫缺陷三联征。患有WAS的患者也易患自身免疫性疾病和恶性肿瘤。据报道，26%-72%的WAS患者有自身免疫表现。自身免疫是预后不良的独立预测因素，且易引发恶性肿瘤。自身免疫的发展也是需要进行造血干细胞移植的早期指征。在本手稿中，我们整理了已发表的数据，并对WAS中的自身免疫表现进行了叙述性综述。文中还总结了目前提出的与WAS自身免疫发展相关的免疫致病机制和基因变异。
