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October 5, 2025Orphanet Journal of Rare DiseasesOpen Access

Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes

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Authors

DBDamla Baysal BakırÖAÖzge AtayHYHalime Yağmur

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Overview

Case series reveals potential links between hyper-IgM phenotype, lupus vulgaris, and genetic variants in pediatric A-T.

Key Points

  • The association between hyper-IgM phenotype and immune dysfunction in A-T was confirmed, emphasizing its clinical significance.
  • A case of lupus vulgaris is documented in a pediatric A-T patient, highlighting novel infectious associations rare in literature.
  • Whole-exome sequencing and ATM gene sequencing were utilized to identify genetic variants in the analyzed patients.
  • Early diagnosis and genetic testing are crucial for atypical presentations of ataxia-telangiectasia, demanding broader screening efforts.

Cite This Study

Bakır et al. (2025) studied this question.

synapsesocial.com/papers/68e28310dcef4a166ce03c21https://doi.org/10.1186/s13023-025-03942-7
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