A rare case of syndromic severe congenital neutropenia: JAGN1 mutation
TURKISH JOURNAL OF PEDIATRICS, vol.62, no.2, pp.326-331, 2020 (SCI-Expanded, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 62 Issue: 2
- Publication Date: 2020
- Doi Number: 10.24953/turkjped.2020.02.022
- Journal Name: TURKISH JOURNAL OF PEDIATRICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
- Page Numbers: pp.326-331
- Istanbul University Affiliated: Yes
Abstract
Background. Neutrophils are essential innate cells to fight bacterial and fungal pathogens. Jagunal homolog 1 (JAGN1) mutations were recently defined as rare genetic defects causing severe congenital neutropenia. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signalling. This gene is required for normal ultrastructure and granulation of endoplasmic reticulum of myeloid progenitor cells. Its defect is related to increased predisposition to apoptosis. In the literature, a few cases have been reported with congenital anomalies such as cardiac and renal anomalies.