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

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.

Source: Allergy, Asthma and Clinical Immunology - June 9, 2023 Category: Allergy & Immunology Authors: Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug and Nima Rezaei Tags: Case report Source Type: research