Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
October 19, 2025BMC Medical GenomicsOpen Access

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report

View Full Paper
Ask AI
Bookmark
Share

Authors

CGChunyu GuQCQ. Q. 崔青青 CuiLWLuo Wang

Discussion

Loading...

Member takes

Overview

This case reveals intractable thrombocytopenia in a child with atypical symptoms, suggesting A-T consideration in immunodeficiency cases.

Key Points

  • Intractable thrombocytopenia was observed, raising initial suspicion of immune thrombocytopenia.
  • Genetic testing identified compound heterozygous genotype in ATM after 17 days of treatment.
  • Anti-infective therapy and other treatments had limited effect on improving platelet count.
  • The findings suggest that A-T should be considered in children with immunodeficiency and thrombocytopenia.

Cite This Study

Gu et al. (2025) studied this question.

synapsesocial.com/papers/68f500b442a2eee15b0a1012https://doi.org/10.1186/s12920-025-02214-4
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity2024
  2. 2Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase.2024 · 4 citations
  3. 3Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia2018 · 97 citations
  4. 4Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions2013 · 200 citations
  5. 5Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia2022 · 24 citations