Christoph Klein and colleagues identify loss-of-function mutations in SMARCD2 (BAF60b) that lead to neutropenia, specific granule deficiency and myelodysplasia. They show that SMARCD2 controls differentiation of myeloid–erythroid progenitor cells through interaction with CEBPɛ and that reduced SMARCD2 levels cause transcription and chromatin alterations in acute myeloid leukemia cells.
- Maximilian Witzel
- Daniel Petersheim
- Christoph Klein
