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, vol.62, no.2, pp.326-331, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.02.022
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.326-331

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.