A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disease of Childhood, Spedali Civili, 25123 Brescia, Italy.
J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9.
A female offspring of consanguineous parents, showed features of Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocytopenia, defective T cell proliferation and chemotaxis, and impaired natural killer cell function. Cells from this patient had undetectable WAS protein (WASP), but normal WAS sequence and messenger RNA levels. WASP interacting protein (WIP), which stabilizes WASP, was also undetectable. A homozygous c.1301C>G stop codon mutation was found in the WIPF1 gene, which encodes WIP. Introduction of WIP into the patient's T cells restored WASP expression. These findings indicate that WIP deficiency should be suspected in patients with features of WAS in whom WAS sequence and mRNA levels are normal.
一名近亲生育的女性后代，表现出威斯科特-奥尔德里奇综合征（WAS）的特征，包括反复感染、湿疹、血小板减少、T 细胞增殖和趋化性缺陷以及自然杀伤细胞功能受损。该患者的细胞中无法检测到 WAS 蛋白（WASP），但 WAS 序列和信使 RNA 水平正常。WASP 相互作用蛋白（WIP）可稳定 WASP，但其也无法检测到。在编码 WIP 的 WIPF1 基因中发现了纯合 c.1301C>G 终止密码子突变。将 WIP 导入患者的 T 细胞中，恢复了 WASP 的表达。这些发现表明，在 WAS 序列和 mRNA 水平正常但具有 WAS 特征的患者中，应怀疑存在 WIP 缺乏症。
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