Severe congenital neutropenia due to jagunal homolog 1 ( JAGN1 ) mutation: a case report and literature review

Severe congenital neutropenia caused by jagunal homolog 1 ( ) mutation is a rare condition resulting from maturation arrest secondary to endoplasmic reticulum stress response from impaired neutrophil protein glycosylation. Here, we report a case of a 4-year-old boy who presented with a history of re...

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Bibliographic Details
Published in:Frontiers in pediatrics 2023-07, Vol.11, p.1223191
Main Authors: Thomas, Sanya, Guenther, Geoffrey, Rowe, Jared H, Platt, Craig D, Shimamura, Akiko, Levy, Ofer, Ganapathi, Lakshmi
Format: Article
Language:English
Subjects:
children
congenital
JAGN1
neutropenia
Pediatrics
severe congenital neutropenia (SCN)
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Summary:Severe congenital neutropenia caused by jagunal homolog 1 ( ) mutation is a rare condition resulting from maturation arrest secondary to endoplasmic reticulum stress response from impaired neutrophil protein glycosylation. Here, we report a case of a 4-year-old boy who presented with a history of recurrent infections and manifestations, including recurrent intracranial hemorrhage. A review of similar cases reported in the literature indicates that a bleeding diathesis has not been previously described in these patients. We hypothesize that this newly described association of bleeding complications in this patient with mutation is secondary to defective glycosylation in the normal functioning of platelets or clotting factors. Recurrent infections with intracranial hemorrhage, new focal neurologic defects, or altered mental status in a child should warrant a suspicion for this immunodeficiency for the prompt initiation of treatment and prophylaxis for life-threatening infections or trauma.
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2023.1223191