Kostmann Syndrome: A Comprehensive Review of a Rare Congenital Neutropenia Disorder

Abstract

Kostmann Syndrome, also known as severe congenital neutropenia type 1 (SCN1), is an exceedingly rare and severe hematological disorder characterized by a near absence of neutrophils in the peripheral blood. This congenital anomaly presents significant challenges in terms of diagnosis, management, and treatment. In this comprehensive article, we delve into the multifaceted aspects of Kostmann Syndrome, providing an in-depth analysis of its pathogenesis, clinical manifestations, genetic underpinnings, and therapeutic interventions. Furthermore, we highlight recent advancements in the understanding of this condition and emerging strategies for its early detection and improved patient care. With this review, we aim to enhance medical practitioners' and researchers' awareness of this condition and facilitate the development of more effective therapeutic modalities for Kostmann Syndrome.