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

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

doi:10.1084/jem.20110896

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

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. GehaSilvia Giliani

Research output: Contribution to journal › Article › peer-review

149 Scopus citations

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.

Original language	English
Pages (from-to)	29-34
Number of pages	6
Journal	Journal of Experimental Medicine
Volume	209
Issue number	1
DOIs	https://doi.org/10.1084/jem.20110896
State	Published - 1 Jan 2012
Externally published	Yes

ASJC Scopus subject areas

Immunology and Allergy
Immunology

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10.1084/jem.20110896

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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, I. M., Massaad, M. J., Ramesh, N., Porta, F., Plebani, A., Notarangelo, L. D., ... Giliani, S. (2012). A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. Journal of Experimental Medicine, 209(1), 29-34. https://doi.org/10.1084/jem.20110896

@article{e781eeef7fce4839b9793f99f08df036,

title = "A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP",

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.",

author = "Gaetana Lanzi and Daniele Moratto and Donatella Vairo and Stefania Masneri and Ottavia Delmonte and Tiziana Paganini and Silvia Parolini and Giovanna Tabellini and Cinzia Mazza and Gianfranco Savoldi and Davide Montin and Silvana Martino and Pierangelo Tovo and Pessach, {Itai M.} and Massaad, {Michel J.} and Narayanaswamy Ramesh and Fulvio Porta and Alessandro Plebani and Notarangelo, {Luigi D.} and Geha, {Raif S.} and Silvia Giliani",

year = "2012",

month = jan,

day = "1",

doi = "10.1084/jem.20110896",

language = "English",

volume = "209",

pages = "29--34",

journal = "Journal of Experimental Medicine",

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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 2012, 'A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP', Journal of Experimental Medicine, vol. 209, no. 1, pp. 29-34. https://doi.org/10.1084/jem.20110896

TY - JOUR

T1 - A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

AU - Lanzi, Gaetana

AU - Moratto, Daniele

AU - Vairo, Donatella

AU - Masneri, Stefania

AU - Delmonte, Ottavia

AU - Paganini, Tiziana

AU - Parolini, Silvia

AU - Tabellini, Giovanna

AU - Mazza, Cinzia

AU - Savoldi, Gianfranco

AU - Montin, Davide

AU - Martino, Silvana

AU - Tovo, Pierangelo

AU - Pessach, Itai M.

AU - Massaad, Michel J.

AU - Ramesh, Narayanaswamy

AU - Porta, Fulvio

AU - Plebani, Alessandro

AU - Notarangelo, Luigi D.

AU - Geha, Raif S.

AU - Giliani, Silvia

PY - 2012/1/1

Y1 - 2012/1/1

N2 - 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.

AB - 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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JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

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ER -

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

Abstract

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