Severe congenital neutropenia, SRP54 pathogenicity, and a Framework for Surveillance

Abstract

Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants (PV) in genes such as ELANE, HAX1, and SBDS.SRP54 PVs 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) PV. Despite ongoing granulocyte colony-stimulating factor (G-CSF) therapy, there has been no evidence of malignant transformation. Here we establish a framework for future development of universal guidelines to care for this patient population.