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

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

Severe congenital neutropenia caused by jagunal homolog 1 (JAGN1) 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 o...

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Bibliographic Details
Main Authors: Sanya Thomas, Geoffrey Guenther, Jared H. Rowe, Craig D. Platt, Akiko Shimamura, Ofer Levy, Lakshmi Ganapathi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Pediatrics
Subjects:
JAGN1
congenital
neutropenia
children
severe congenital neutropenia (SCN)
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1223191/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1223191/full

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