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

[Wiskott-Aldrich syndrome with platelets of normal size and c.295C>T mutation of the WAS gene. Case report].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) - 19 Apr 2023

Cunha-Carneiro Maria Luiza, Xavier-Andrade Millena, Bacarini-Leite Luiz Fernando, Mosca Tainá, Carvalho Neves Forte Wilma

Abstract excerpt

BACKGROUND: Wiskott-Aldrich syndrome is an Inborn Error of Immunity characterized by thrombocytopenia, small platelets, severe eczema, recurrent infections, tendency to autoimmune diseases and neoplasms. The diagnosis of the syndrome can be difficult, especially when platelets are of normal size. CASE REPORT: A three-year-old male patient was referred to a specialized sector of university hospital for presenting...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Eczema

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Quality of Life

Share to Sepsis

Share to Thrombocytopenia

Share to Wiskott-Aldrich Syndrome

Share to Wiskott-Aldrich Syndrome Protein

Source

Identifiers

PMID: 37218050
DOI: 10.29262/ram.v69i4.1178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Wiskott-Aldrich syndrome with platelets of normal size and c.295C>T mutation of the WAS gene. Case report].PMID 37218050Read ↗

The Wiskott–Aldrich syndromeSemantic proximity Read ↗

[Wiskott-Aldrich Syndrome: An updated review].Semantic proximity Read ↗

[The gene mutation analysis of a Wiskott-Aldrich syndrome family with normal mean platelet volume].Semantic proximity Read ↗

[Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].Semantic proximity Read ↗

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

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.Semantic proximity Read ↗

[Clinical features and genotype analysis of 132 patients 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 ↗

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 Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report.Semantic proximity Read ↗

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.Semantic proximity Read ↗

A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.Semantic proximity Read ↗

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