. DEFECTS OF ADAPTIVE IMMUNITY .
These conditions are characterized by neutrophil-specific defects that produce severe congenital neutropenia (SCN). Germline mutations in neutrophil elastase (encoded by ELANE) can cause severe congenital neutropenia and cyclic neutropenia, while HAX1 mutations can produce autosomal recessive congenital neutropenia. Mutations in CSF3R, GFI1, WAS, and RAC2 produce neutropenia associated with other hematopoietic defects.
- Infections, disseminated, recurrent
- Poor wound healing
- Onset: infancy
- Few families described
Service benefits and management
- Accurate diagnosis & prognosis
- Complications management
- Targeted treatment
- Prophylactic antibacterials
- G-CSF therapy
- Hematopoietic stem cell transplantation (HSCT)
CSF3R, ELANE, GFI1, HAX1, MKL1, RAC2, WAS