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

• Main Authors: Sanya Thomas (Author), Geoffrey Guenther (Author), Jared H. Rowe (Author), Craig D. Platt (Author), Akiko Shimamura (Author), Ofer Levy (Author), Lakshmi Ganapathi (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Teme: article
• Online dostop: 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...