Ontology highlight
ABSTRACT:
SUBMITTER: Pittermann E
PROVIDER: S-EPMC5737589 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Pittermann Erik E Lachmann Nico N MacLean Glenn G Emmrich Stephan S Ackermann Mania M Göhring Gudrun G Schlegelberger Brigitte B Welte Karl K Schambach Axel A Heckl Dirk D Orkin Stuart H SH Cantz Tobias T Klusmann Jan-Henning JH
Blood advances 20170602 14
Severe congenital neutropenia (SCN, Kostmann disease) is a heritable disorder characterized by a granulocytic maturation arrest. Biallelic mutations in <i>HCLS1 associated protein X-1</i> (<i>HAX1</i>) 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 established to study SCN mediated by HAX1 deficiency. Here we demonstrate defective neutrophilic differentiation and compensatory mono ...[more]