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Allergy, Asthma & Clinical Immunology
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Open Access 01-12-2023 | Neutropenia | Case report

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

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

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2023

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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.
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Metadata
Title
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
Authors
Negar Moradian
Samaneh Zoghi
Elham Rayzan
Simin Seyedpour
Raul Jimenez Heredia
Kaan Boztug
Nima Rezaei
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Allergy, Asthma & Clinical Immunology / Issue 1/2023
Electronic ISSN: 1710-1492
DOI
https://doi.org/10.1186/s13223-023-00804-4

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