J Pediatr Genet 2020; 09(01): 066-068
DOI: 10.1055/s-0039-1694778
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19

1  Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
Swati Upadhyay
1  Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
Anand Nandakumar
1  Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
Jyothi Prabhakar
1  Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
Naveen Jain
1  Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
› Author Affiliations
Further Information

Publication History

27 April 2019

09 July 2019

Publication Date:
19 August 2019 (online)

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.