Détail du document
Identifiant
oai:pubmedcentral.nih.gov:1025...
Sujet
Case ReportAuteur
Moradian, Negar Zoghi, Samaneh Rayzan, Elham Seyedpour, Simin Jimenez Heredia, Raul Boztug, Kaan Rezaei, NimaLangue
enEditeur
BioMed Central
Catégorie
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Année
2023
Date de référencement
22/09/2023
Mots clés
neutropenia congenitalRésumé
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.
Moradian, Negar,Zoghi, Samaneh,Rayzan, Elham,Seyedpour, Simin,Jimenez Heredia, Raul,Boztug, Kaan,Rezaei, Nima, 2023, Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient, BioMed Central
Hespi: A pipeline for automatically detecting information from hebarium specimen sheets
science recognition institutional detects text-based text pipeline specimen
