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

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology Pub Date : 2023-06-09 DOI:10.1186/s13223-023-00804-4

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

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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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G6PC3缺乏引起的严重先天性中性粒细胞减少症:患者的早期和延迟表型

背景:重度先天性中性粒细胞减少症4型(SCN4)是一种罕见的常染色体隐性遗传病，由G6PC3基因突变引起。表型包括不同程度的中性粒细胞减少症和伴随的异常。病例介绍:我们报告一位确诊G6PC3缺乏的男性患者，表现为反复的细菌感染和多系统并发症。我们的病例是第一个在G6PC3中出现新的纯合移码突变的病例。患者外周血涂片显示有大血小板，这是这种疾病的罕见表现。结论:SCN4患者容易漏诊，对于任何先天性不明原因的中性粒细胞减少症，建议考虑G6PC3突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology

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