Article
Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
American journal of medical genetics. Part A - 1 May 2023
Fan Elaine M, Vagher Jennie, Meznarich Jessica A, Ubico Erin Morales, Goteti Sasidhar, Peterson David, Rayes Ahmad, Maese Luke D
Abstract excerpt
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...
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