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Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.

Yang YouWenjuan WuBaoguang Li
Published in: Medicine (2023)
Lesions involving the cerebellum and brainstem in children with ataxia and cranial nerve damage could be indicative of primary FHL; thus, the inherent immune test and gene test should be timely performed to help confirm the diagnosis, guide the treatment, and improve the prognosis.
Keyphrases
  • early onset
  • young adults
  • oxidative stress
  • copy number
  • genome wide
  • gene expression
  • combination therapy
  • dna methylation
  • transcription factor
  • smoking cessation