A rare case of syndromic severe congenital neutropenia: jagn1 mutation
- Resource Type
- Authors
- Funda Erol Cipe; Gonca Keskindemirci; Cigdem Aydogmus; Kubra Baskin; Wojciech Garncarz; Kaan Boztug
- Source
- The Turkish Journal of Pediatrics. 62:326
- Subject
- Mutation
business.industry
Endoplasmic reticulum
Granulocyte
medicine.disease_cause
medicine.anatomical_structure
Pediatrics, Perinatology and Child Health
Rare case
Immunology
Medicine
Jagunal homolog 1
business
Congenital Neutropenia
Gene
Secretory pathway
- Language
- ISSN
- 0041-4301
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 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. Case Here we report a patient in which JAGN1 deficiency was found after several years. Apart from syndromic facial appearance we were unable to detect any other systemic malformations. Conclusion The causes of multisystemic features of mutations in JAGN1 gene remain unknown. JAGN1 mutations must be considered in patients with severe congenital neutropenia especially with facial dismorphism even in the absence of systemic manifestations.