Pediatr. praxi. 2026;27(3):186-188 | DOI: 10.36290/ped.2026.030
Case report of severe congenital neutropenia
- Oddělení dětské hematologie Fakultní nemocnice Brno, Lékařská fakulta Masarykovy univerzity ERN-EuroBloodNet (European Reference Network on Rare Hematological Diseases)
Severe congenital neutropenia (SCN) comprises a group of rare hematological disorders characterized by profound neutropenia (ANC < 0.5 × 10⁹/L) and impaired neutrophil maturation in the bone marrow. The disease typically presents in early infancy with recurrent and potentially life-threatening bacterial infections. The most common genetic causes include mutations in the ELANE and HAX1 genes. SCN is associated with an increased risk of progression to myelodysplastic syndrome and acute myeloid leukemia. Granulocyte colony-stimulating factor (G-CSF) is the mainstay of therapy, significantly improving neutrophil counts and reducing infections. Hematopoietic stem cell transplantation remains the only curative option.
Keywords: neutropenia, agranulocytosis, infants, toddlers, recurrent severe infections.
Accepted: June 22, 2026; Published: July 1, 2026 Show citation
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