Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in the ELANE Gene-First Report From North Macedonia and a Literature Review: A Case Report.

BACKGROUND

Severe congenital neutropenia (SCN) is a rare group of hematologic disorders characterized by defects in the maturation and differentiation of neutrophilic granulocytes. This condition leads to severe chronic neutropenia, defined as an absolute neutrophil count of less than 0.5 × 10^9/L, and susceptibility to lethal pyogenic and fungal infections. SCN has a diverse genetic basis; however, it is most commonly linked to mutations in the ELANE gene, with over 230 mutations reported to date.

CASE PRESENTATION: We present a male term newborn who exhibited symptoms of neonatal pneumonia, delayed separation of the umbilical cord stump, and persistent neutropenia. Diagnosis was confirmed through bone marrow aspiration biopsy and a genetic analysis revealing the novel mutation c.200C > G (p.Ser67Trp) in the ELANE gene, marking the first reported case of SCN from North Macedonia. Additionally, a comprehensive review of published cases will be provided.

CONCLUSION

SCN is rarely reported in newborns, and the diagnosis is often delayed or missed. Maintaining a high level of suspicion and ensuring early referral for genetic testing is required to reduce the risk of infection and improve the overall prognosis. Also, reporting cases harboring novel mutations is crucial for advancing our understanding of the disease pathogenesis and establishing phenotype-genotype correlations.