Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Elaine M FanJennie VagherJessica A MeznarichErin Morales UbicoSasidhar GotetiDavid PetersonAhmad RayesLuke D MaesePublished in: American journal of medical genetics. Part A (2023)
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.
Keyphrases
- case report
- copy number
- healthcare
- early onset
- systematic review
- palliative care
- genome wide
- drug induced
- stem cells
- quality improvement
- current status
- gene expression
- clinical practice
- bone marrow
- dna methylation
- escherichia coli
- cell therapy
- affordable care act
- transcription factor
- health insurance
- genome wide analysis