Article

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

2022-10-27

Abstract excerpt

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 infecti...

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Literature Corpus work: 68233717-37bd-5624-8b99-8a0ff6f498f1
DOI: 10.22541/au.166689366.63826792/v1

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