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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Detalles Bibliográficos
Autores principales: Thomas, Sanya, Guenther, Geoffrey, Rowe, Jared H., Platt, Craig D., Shimamura, Akiko, Levy, Ofer, Ganapathi, Lakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389042/
https://www.ncbi.nlm.nih.gov/pubmed/37528877
http://dx.doi.org/10.3389/fped.2023.1223191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389042/
https://www.ncbi.nlm.nih.gov/pubmed/37528877
http://dx.doi.org/10.3389/fped.2023.1223191

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