Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells.


Severe congenital neutropenia (SCN, Kostmann disease) is a heritable disorder characterized by a granulocytic maturation arrest. Biallelic mutations in HCLS1 associated protein X-1 (HAX1) are frequently detected in affected individuals, including those of the original pedigree described by Kostmann in 1956. To date, no faithful animal model has been… (More)
DOI: 10.1182/bloodadvances.2016003798


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