Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child with Intermittent Neutropenia: Journal of Pediatric Hematology/Oncology

C Cifaldi, J Serafinelli, D Petricone, I Brigida, S Di Cesare, G Di Matteo, M Chiriaco, R De Vito, G Palumbo, P Rossi, P Palma, C Cancrini, A Aiuti, A Finocchi

Research output: Contribution to journalArticlepeer-review

Abstract

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 endoplasmic reticulum and susceptibility to apoptosis. Observations: We report a patient exhibiting an intermittent neutropenia, for which a next-generation sequencing revealed a homozygous mutation in the JAGN1 gene. Conclusions: The patient extends the clinical variability associated to JAGN1 mutations, and this case highlights the importance of genetic investigations in patients with suspected neutropenia. © 2018 Lippincott Williams and Wilkins. All rights reserved.
Original languageEnglish
Pages (from-to)e266–e269
JournalJournal of Pediatric Hematology/Oncology
Volume41
Issue number4
DOIs
Publication statusPublished - 2019

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