Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchanges (SCEs) is used as a diagnostic marker for BS. In addition, most patients also present mutations in the BLM gene, related to defects in the DNA repair mechanism. However, the molecular mechanism behind the pathogenicity of BS is still not completely understood.

• Publication year

  2020

• Venue

  Molecular Genetics & Genomic Medicine

• Publication date

  2020-02-19

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/mgg3.1133PMID 32073752PMCID 7196489
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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