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Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.

Pediatric blood & cancer - 1 Jun 2014

Roques Gaëlle, Munzer Martine, Barthez Marie-Anne Carpentier, Beaufils Sandrine, Beaupain Blandine, Flood Terry, Keren Boris, Bellanné-Chantelot Christine, Donadieu Jean

Abstract excerpt

OBJECTIVES: To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France. STUDY DESIGN: Two pedigrees were identified from the French registry. RESULTS: The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1-1.2 years) and...

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Identifiers

PMID: 24482108
DOI: 10.1002/pbc.24964

Genes

HAX1

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