先天性好中球減少症：臨床症例報告

Congenital neutropenia is a primary immunodeficiency characterized by a low neutrophil count, which predisposes to recurrent infections. A mutation in the ELANE gene is the most common cause of this disorder.

A 3-month-old infant with a history of recurrent bacterial infections since birth. The patient had presented with omphalitis and preseptal cellulitis, associated with a low blood neutrophil count. Suspecting congenital neutropenia, a genetic panel was performed, identifying a pathogenic mutation in the ELANE gene (c.164G>A, p.Cys55Tyr). Treatment with granulocyte colony-stimulating factor (G-CSF) was initiated, resulting in a significant improvement in the neutrophil count and resolution of the recurrent infections. The patient showed significant clinical improvement and is currently on a therapeutic protocol and receiving regular follow-up.

This case illustrates the importance of early diagnosis of congenital neutropenia. In every case where a pediatric patient with recurrent and difficult-to-manage bacterial infections is studied.