A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

作者：Lanzi Gaetana; Moratto Daniele; Vairo Donatella; Masneri Stefania; Delmonte Ottavia; Paganini Tiziana; Parolini Silvia; Tabellini Giovanna; Mazza Cinzia; Savoldi Gianfranco; Montin Davide; Martino Silvana; Tovo Pierangelo; Pessach Itai M; Massaad Michel J; Ramesh Narayanaswamy; Porta Fulvio; Plebani Alessandro; Notarangelo Luigi D; Geha Raif S; Giliani Silvia^*

来源：Journal of Experimental Medicine, 2012, 209(1): 29-34.

DOI：10.1084/jem.20110896

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%26gt;G stop codon mutation was found in the WIPF1 gene, which encodes WIP. Introduction of WIP into the patient%26apos;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.

• 出版日期2012-1-16