Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance

Abstract

Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants in genes such as ELANE, HAX1, and SBDS. SRP54 pathogenic variants are associated with SCN and Shwachman‐Diamond‐like syndrome. Thirty‐eight patients with SRP54‐related SCN are reported in the literature. We present an infant with SCN, without classic Shwachman‐Diamond syndrome features, who presented with recurrent bacterial infections and an SRP54 (c.349_351del) pathogenic variant. Despite ongoing granulocyte colony‐stimulating factor therapy, this patient has no evidence of malignant transformation. Here we establish a framework for the future development of universal guidelines to care for this patient population.