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Article

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

The Turkish journal of pediatrics - 1 Jan 2020

Çipe Funda Erol, Aydoğmuş Çiğdem, Baskın Kübra, Keskindemirci Gonca, Garncarz Wojciech, Boztuğ Kaan

Abstract excerpt

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 receptormediated signalling. This gene is required for normal ultrastructure and granulation of...

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PMID: 32419428
DOI: 10.24953/turkjped.2020.02.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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