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Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.

Lauren E HeusinkveldErin YimAlexander YangAri B AzaniQian LiuJi-Liang GaoDavid H McDermottPhilip M Murphy
Published in: Expert opinion on orphan drugs (2017)
WHIM syndrome may be particularly amenable to mechanism-based therapeutics for three reasons: 1) CXCR4 has been validated as the molecular target in the disease by Mendelian genetics; 2) the biochemical abnormality is excessive CXCR4 signaling; and 3) antagonists selective for CXCR4 have been developed. Plerixafor is FDA-approved for hematopoietic stem cell (HSC) mobilization and has shown preliminary safety and efficacy in phase I clinical trials in WHIM syndrome. Gene editing may represent a viable cure strategy, since chromothriptic deletion of the disease allele in HSCs resulted in clinical cure of a patient and because CXCR4 haploinsufficiency enhances engraftment of transplanted HSCs in mice.
Keyphrases
  • hematopoietic stem cell
  • case report
  • clinical trial
  • cell migration
  • type diabetes
  • randomized controlled trial
  • body mass index
  • skeletal muscle
  • physical activity
  • weight loss