Condition: Neutropenia, Severe Congenital, X-Linked


rs132630268 in WAS gene and Neutropenia, Severe Congenital, X-Linked PMID 10202051 1999 Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

PMID 17213309 2007 WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

PMID 23033889 2013 Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

PMID 19817875 2009 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

PMID 15284122 2004 Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

PMID 12969986 2004 Clinical course of patients with WASP gene mutations.

PMID 22523910 2012 Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.

PMID 20959042 2010 [WASP gene mutation analysis of a family of X-linked thrombocytopenia].

PMID 9326235 1997 Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

PMID 11242115 2001 Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD).

PMID 8682510 1996 Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

PMID 25476427 2014 [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].

PMID 21185603 2011 Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

PMID 25792466 2015 B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

PMID 28623282 2017 A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.

PMID 11442475 2001 Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

PMID 8528198 1995 Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

PMID 22679904 2012 Molecular basis of Wiskott-Aldrich syndrome in patients from India.

PMID 7579347 1995 The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

PMID 22426750 2012 Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

PMID 25332606 2014 Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature.

PMID 25931402 2015 Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.

PMID 8931701 1996 Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

PMID 11793485 2002 Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

PMID 27264129 2011 Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.

PMID 20173115 2010 X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

PMID 26261240 2015 SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

PMID 28931895 2017 Defective thymic output in WAS patients is associated with abnormal actin organization.

PMID 8595430 1995 Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.

PMID 8528199 1995 WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.