Back to search

Article

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

2026-06-16

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Wiskott-Aldrich Syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, and recurrent infections. Delayed diagnosis is common due to clinical overlap with immune thrombocytopenia (ITP). <bold>Case Description:</bold> We report a 5-year-old male patient from Zacatecas, Mexico, with a family history of a broth...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
199a1f0b-ae1a-5f0d-8c59-43056b973cfd
DOI
10.21203/rs.3.rs-10024571/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Case Report: A novel splice donor site mutation (c.2364+2T&gt;C) in the WAS gene presenting as refractory microthrombocytopenia and acute hemarthrosisDOI 10.21203/rs.3.rs-10024571/v1
A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia.Semantic proximity
CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY.Semantic proximity
Wiskott-Aldrich syndrome: Two case reports with a novel mutation.Semantic proximity
A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.Semantic proximity
Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.Semantic proximity
Wiskott-Aldrich syndrome: a comprehensive review.Semantic proximity
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.Semantic proximity
Clinical, Laboratory Features and Clinical Courses of Patients with Wiskott Aldrich Syndrome and X-linked Thrombocytopenia-A single center study.Semantic proximity
A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature.Semantic proximity
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.Semantic proximity
Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.Semantic proximity
Wiskott-Aldrich Syndrome: Description of a New Gene Mutation With Normal Platelet Volume.Semantic proximity
Select a neighboring publication to make it the new centre.