Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Multiple independent second‐site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome

13 May 2008

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disorder associated with microthrombocytopenia, eczema, autoimmunity and predisposition to malignant lymphoma. Although rare, few cases of somatic mosaicism have been published in WAS patients to date. We here report on two Ukrainian siblings who were referred to us at the age of 3 and 4 years, respectively. Both patients suffered from severe...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood disorders and treatments
Share to Cell Adhesion Molecules Research
Share to Cellular Mechanics and Interactions

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18479478
DOI: 10.1111/j.1399-0004.2008.01019.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiple independent second‐site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndromePMID 18479478Read ↗

Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.Semantic 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 ↗

Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.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 ↗

CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY.Semantic proximity Read ↗

Wiskott-Aldrich syndrome: Two case reports with a novel mutation.Semantic proximity Read ↗

Case Report: A novel splice donor site mutation (c.2364+2T>C) in the WAS gene presenting as refractory microthrombocytopenia and acute hemarthrosisSemantic proximity Read ↗

A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia.Semantic proximity Read ↗

Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants.Semantic proximity Read ↗

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.Semantic proximity Read ↗

Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.