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

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

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

Document detail

ID

oai:pubmedcentral.nih.gov:1025...

Topic

Case Report

Author

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

Langue

Editor

BioMed Central

Year

2023

listing date

9/22/2023

Keywords

neutropenia congenital

Metrics

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.

Moradian, Negar,Zoghi, Samaneh,Rayzan, Elham,Seyedpour, Simin,Jimenez Heredia, Raul,Boztug, Kaan,Rezaei, Nima, 2023, Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient, BioMed Central