Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

doi:10.1186/s13023-014-0183-8

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Article

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Orphanet journal of rare diseases - 10 Dec 2014

Desplantes Claire, Fremond Marie Louise, Beaupain Blandine, Harousseau Jean Luc, Buzyn Agnès, Pellier Isabelle, Roques Gaelle, Morville Pierre, Paillard Catherine, Bruneau Julie, Pinson Lucile, Jeziorski Eric, Vannier Jean Pierre, Picard Capucine, Bellanger Florence, Romero Norma, de Pontual Loïc, Lapillonne Hélène, Lutz Patrick, Chantelot Christine Bellanné, Donadieu Jean

Abstract excerpt

BACKGROUND: The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. METHODS: Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal recessive G6PC3 mutations. RESULTS: Median age at the last visit was 22.4 years. All patients...

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PMID: 25491320
DOI: 10.1186/s13023-014-0183-8
PMCID: PMC4279596

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