- A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
The Journal of experimental medicine (2012-01-11)
Gaetana Lanzi, Daniele Moratto, Donatella Vairo, Stefania Masneri, Ottavia Delmonte, Tiziana Paganini, Silvia Parolini, Giovanna Tabellini, Cinzia Mazza, Gianfranco Savoldi, Davide Montin, Silvana Martino, Pierangelo Tovo, Itai M Pessach, Michel J Massaad, Narayanaswamy Ramesh, Fulvio Porta, Alessandro Plebani, Luigi D Notarangelo, Raif S Geha, Silvia Giliani
PMID22231303
ABSTRACT
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.
MATERIALS
Product Number
Brand
Product Description
Sigma-Aldrich
Anti-WIPF1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution