噬血细胞性淋巴组织细胞增多症
外显子组测序
医学
突变
噬血作用
免疫学
外显子
内科学
基因
生物
遗传学
骨髓
疾病
全血细胞减少症
作者
Chunyan Fu,Rong Wen,Jiyong Zhou,Jingfei Hu,Xiuxiang Liu
出处
期刊:Clinical Laboratory
[Clinical Laboratory Publications]
日期:2023-01-01
卷期号:69 (12/2023)
被引量:1
标识
DOI:10.7754/clin.lab.2023.230648
摘要
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is a rare hyper-inflammatory syndrome caused by mutations in STXBP2. Most cases present at 2 - 6 months of age, and FHL-5 is extremely rare in neonates.Appropriate laboratory tests, abdominal ultrasonography and whole exome sequencing were carried out. Respiratory support, antibiotics, and transfusion of blood products were done.Laboratory tests revealed metabolic acidosis, thrombocytopenia, mild anemia, and low fibrinogen level. Blood culture, metagenomics, and TORCH screening were negative. Liver and spleen enlargements were confirmed by abdominal ultrasonography. Whole exome sequencing identified a homozygous mutation in STXBP2 c. 1432del G (p. V478Sfs*5). The heterozygous STXBP2 mutation was identified in the paternal grandfather, maternal grandfather, and parents.Here we report a case with a novel homozygous deletion in exon 16 of STXBP2, which caused the earliest reported case of FHL-5 in a neonate. Our results identify a new pathogenic variant for the early identification and clinical consultation of FHL-5.
科研通智能强力驱动
Strongly Powered by AbleSci AI