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

doi:10.1084/jem.20110896

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Article

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

The Journal of experimental medicine - 16 Jan 2012

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

Abstract excerpt

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...

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Identifiers

PMID: 22231303
DOI: 10.1084/jem.20110896
PMCID: PMC3260865

Genes

WIPF1

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.PMID 22231303Read ↗

X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP)Semantic proximity Read ↗

WIP is a chaperone for Wiskott–Aldrich syndrome protein (WASP)Semantic proximity Read ↗

Wiskott-Aldrich Syndrome in four male siblings from a consanguineous family from Lebanon.Semantic proximity Read ↗

WIP null mice display a progressive immunological disorder that resembles Wiskott–Aldrich syndromeSemantic proximity Read ↗

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

The expression of Wiskott-Aldrich syndrome protein (WASP) is dependent on WASP-interacting protein (WIP)Semantic proximity Read ↗

WIP, a protein associated with Wiskott–Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cellsSemantic proximity Read ↗

A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.Semantic proximity Read ↗

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.Semantic proximity Read ↗

A novel anti-WIP monoclonal antibody detects an isoform of WIP that lacks the WASP binding domain.Semantic proximity Read ↗

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS geneSemantic proximity Read ↗

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