A rare case of syndromic severe congenital neutropenia: JAGN1 mutation

Cipe F. E. , Aydogmus C., Baskin K., Keskindemirci G. , Garncarz W., Boztug K.

TURKISH JOURNAL OF PEDIATRICS, cilt.62, ss.326-331, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 62 Konu: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.02.022
  • Sayfa Sayısı: ss.326-331


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.