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J Pediatr Genet 2020; 09(01): 066-068
DOI: 10.1055/s-0039-1694778
DOI: 10.1055/s-0039-1694778
Case Report
Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19
Further Information
Publication History
27 April 2019
09 July 2019
Publication Date:
19 August 2019 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00029027/202001/lookinside/thumbnails/10-1055-s-0039-1694778_1900033-1.jpg)
Abstract
Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features and supportive laboratory findings, who had a homozygous missense variation in exon 19 of STXBP2 that results in an amino acid substitution of aspartic acid for glycine. Adding to the currently scant literature on this variation may contribute to the database pool and help to confirm assertion of pathogenicity in FHLH.
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