Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

Cristina Cifaldi, Jessica Serafinelli, Davide Petricone, Immacolata Brigida, Silvia Di Cesare, Gigliola Di Matteo, Maria Chiriaco, Rita De Vito, Giuseppe Palumbo, Paolo Rossi, Paolo Palma, Caterina Cancrini, Alessandro Aiuti, Andrea Finocchi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Publication statusE-pub ahead of print - Jul 23 2018


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