. DEFECTS OF ADAPTIVE IMMUNITY .

Neutropenia, Non-Syndromic panel [7 genes]

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.

Clinical features

  • Infections, disseminated, recurrent
  • Poor wound healing
  • Onset: infancy

Prevalence

  • Rare
  • 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

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