Neutropenia, severe congenital, 10, autosomal recessive- MedGen UID:
- 1851433
- •Concept ID:
- C5882756
- •
- Disease or Syndrome
Autosomal recessive severe congenital neutropenia-10 (SCN10) is characterized by infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Anemia and thrombocytopenia may be transiently present. The disorder results from impaired development of granulocyte precursors and neutrophils (Schmaltz-Panneau et al., 2021).
For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).