2. Academic Validation
  3. 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

  • J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896.
Gaetana Lanzi 1,  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
Affiliations

Affiliation

  • 1 A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disease of Childhood, Spedali Civili, 25123 Brescia, Italy.
PMID: 22231303 DOI: 10.1084/jem.20110896
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.

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