Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Am J Med Genet A
; 191(5): 1434-1441, 2023 05.
Article
en En
| MEDLINE
| ID: mdl-36815775
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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Neutropenia
Tipo de estudio:
Guideline
/
Screening_studies
Límite:
Humans
/
Infant
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Estados Unidos