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

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

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 deficienc...

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Bibliographic Details
Main Authors: Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
Severe congenital neutropenia
G6PC3 deficiency
Whole exome sequencing
Online Access:https://doi.org/10.1186/s13223-023-00804-4

Internet

https://doi.org/10.1186/s13223-023-00804-4

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