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Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
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 prese...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257254/ https://www.ncbi.nlm.nih.gov/pubmed/37296469 http://dx.doi.org/10.1186/s13223-023-00804-4 |
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author | Moradian, Negar Zoghi, Samaneh Rayzan, Elham Seyedpour, Simin Jimenez Heredia, Raul Boztug, Kaan Rezaei, Nima |
author_facet | Moradian, Negar Zoghi, Samaneh Rayzan, Elham Seyedpour, Simin Jimenez Heredia, Raul Boztug, Kaan Rezaei, Nima |
author_sort | Moradian, Negar |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10257254 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-102572542023-06-11 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 Allergy Asthma Clin Immunol Case Report 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. BioMed Central 2023-06-09 /pmc/articles/PMC10257254/ /pubmed/37296469 http://dx.doi.org/10.1186/s13223-023-00804-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report 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 |
title | Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient |
title_full | Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient |
title_fullStr | Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient |
title_full_unstemmed | Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient |
title_short | Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient |
title_sort | severe congenital neutropenia due to g6pc3 deficiency: early and delayed phenotype of a patient |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257254/ https://www.ncbi.nlm.nih.gov/pubmed/37296469 http://dx.doi.org/10.1186/s13223-023-00804-4 |
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