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

Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies. Case presentation: We report a male patient with confirmed G6PC3 deficiency presented with recurrent bacterial infections and multi-systemic complications. Our case was the first with a novel homozygous frameshift mutation in G6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease. Conclusion: As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.

Original languageEnglish (US)
Article number51
JournalAllergy, Asthma and Clinical Immunology
Volume19
Issue number1
DOIs
StatePublished - Dec 2023
Externally publishedYes

Keywords

  • G6PC3 deficiency
  • Severe congenital neutropenia
  • Whole exome sequencing

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Pulmonary and Respiratory Medicine

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