Congenital neutropenia comprises a group of rare disorders marked by persistent or intermittent neutropenia and a high risk of severe infections. This study describes the clinical, biological, cytological, genetic, and outcome characteristics of Tunisian patients.
We retrospectively reviewed patients diagnosed with congenital neutropenia before age 18, either genetically confirmed or strongly suspected based on clinical, biological, or cytological criteria, followed at the Pediatric Hematology Department, National Bone Marrow Transplant Center, Tunis, between January 2005 and December 2023.
37 patients were included. A positive family history was present in 56% of cases. Associated malformations were observed in 34% of children. Chronic digestive disorders occurred in 46%, and oral manifestations affected 81%, mainly oral aphthosis (57%). Organomegaly was noted in 38% of cases. Patients experienced a median of three hospitalizations per year for severe infections, predominantly caused by Staphylococcus aureus. Neutropenia was persistent in 23 patients and intermittent in 14. Monocytosis (47%), eosinophilia (30%), and other cytopenias (33%) were common. Bone marrow aspiration revealed maturation arrest in 43% of cases, especially in non-syndromic forms (p = 0.011). Genetic analysis was performed in 65% of patients, identifying ELANE and CN-UNC (9 cases), G6PC3 and SBDS (6 and 3 cases), rarer entities including GATA2, SHP2, GSD1b (2 cases each), and CXCR4, CXCR2, JAGN1, ADA2 (1 case each). G-CSF was administered to 62% of patients, with a median maintenance dose of 1 µg/kg/day; three patients showed G-CSF resistance. 12 malignant transformations occurred, and six patients underwent hematopoietic stem cell transplantation. Overall mortality was 19%.
Management of congenital neutropenia remains challenging due to heterogeneous clinical presentations and therapeutic requirements. Establishing a national registry is essential to better characterize these patients, optimize follow-up, and improve therapeutic strategies.
