Article
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
Journal of pediatric hematology/oncology - 1 May 2019
Cifaldi Cristina, Serafinelli Jessica, Petricone Davide, Brigida Immacolata, Di Cesare Silvia, Di Matteo Gigliola, Chiriaco Maria, De Vito Rita, Palumbo Giuseppe, Rossi Paolo, Palma Paolo, Cancrini Caterina, Aiuti Alessandro, Finocchi Andrea
Abstract excerpt
BACKGROUND: Jagunal homolog 1 (JAGN1) gene was identified as a novel responsible for severe congenital neutropenia. The protein encoded by this gene is required for neutrophil differentiation, survival and function in microbial activity. JAGN1-deficient human neutrophils are characterized by alterations in trafficking within the endoplasmic reticulum and golgi compartments because of ultrastructural defects in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.