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Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.

Negar MoradianSamaneh ZoghiElham RayzanSimin SeyedpourRaul Jimenez HerediaKaan BoztugNima Rezaei
Published in: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology (2023)
As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • early onset
  • case report
  • peritoneal dialysis
  • chemotherapy induced
  • replacement therapy