Pediatric Hematology-Oncology, University of Utah and Primary Children's Hospital, Salt Lake City, Utah, USA.
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Am J Med Genet A. 2023 May;191(5):1434-1441. doi: 10.1002/ajmg.a.63156. Epub 2023 Feb 23.
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.
严重先天性中性粒细胞减少症（SCN）是一种罕见疾病，通常由 ELANE、HAX1 和 SBDS 等基因的致病性变异引起。SRP54 致病性变异与 SCN 和 Shwachman-Diamond 样综合征相关。文献中报道了 38 例与 SRP54 相关的 SCN 患者。我们报告了一例 SCN 患儿，无典型 Shwachman-Diamond 综合征特征，表现为反复细菌感染和 SRP54（c.349_351del）致病性变异。尽管持续进行粒细胞集落刺激因子治疗，但该患者无恶性转化证据。在此，我们为未来制定针对这一患者群体的通用护理指南奠定了框架。
