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.

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

DELMONTE, Ottavia Maria;MONTIN, DAVIDE;MARTINO, Silvana;TOVO, Pier Angelo;
2012

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260865/
Base Sequence; Cytoskeletal Proteins; Female; Gene Expression Regulation; Gene Order; Humans; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Mutation; T-Lymphocytes; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
Lanzi G; Moratto D; Vairo D; Masneri S; Delmonte O; Paganini T; Parolini S; Tabellini G; Mazza C; Savoldi G; Montin D; Martino S; Tovo P; Pessach IM; Massaad MJ; Ramesh N; Porta F; Plebani A; Notarangelo LD; Geha RS; Giliani S.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/102302
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