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Rockefeller University Press, Journal of Experimental Medicine, 1(209), p. 29-34, 2012

DOI: 10.1084/jem.20110896

Rockefeller University Press, Journal of Cell Biology, 2(196), p. i1-i1

DOI: 10.1083/jcb1962oia1

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

Journal article published in 2012 by Gaetana Lanzi, Daniele Moratto, Donatella Vairo, Stefania Masneri, Ottavia Delmonte, Tiziana Paganini, Silvia Parolini, Giovanna Tabellini, Cinzia Mazza, Gianfranco Savoldi, Pessach Im, Davide Montin, Silvana Martino, Pierangelo Tovo, Itai M. Pessach and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.