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

• Hoofdauteurs: Sanya Thomas (Auteur), Geoffrey Guenther (Auteur), Jared H. Rowe (Auteur), Craig D. Platt (Auteur), Akiko Shimamura (Auteur), Ofer Levy (Auteur), Lakshmi Ganapathi (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...