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Germline Compound Heterozygous Variants Identified in the STXBP2 Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report.

ABSTRACT: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, potentially fatal autosomal-recessive immunodeficiency, and STXBP2 mutations have been associated with FHL type 5 (FHL-5). Here, we report a case of a 2-year-old boy who presented with recurrent fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, and hypofibrinogenemia since 4 months of age. His genetic analysis revealed a compound heterozygosity of the STXBP2 gene with a described pathogenic mutation, c.1247-1G>C (splicing acceptor site), harbored by his father and a likely pathogenic variant of uncertain significance (VUS), c.704G>A (p.Arg235Gln), harbored by his mother. He was diagnosed as compound heterozygous for FHL-5 and was treated with the HLH-2004 protocol. Since treatment, this patient has been in remission, and he is being evaluated for a hematopoietic stem cell transplantation (HSCT).

SUBMITTER: Dantas VM 

PROVIDER: S-EPMC8264126 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Germline Compound Heterozygous Variants Identified in the <i>STXBP2</i> Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report.

Dantas Vera Maria VM   Valle Cassandra Teixeira CT   de Oliveira Roberta Piccin RP   Bezerra Mylena Taíse Azevedo L MTAL   do Amaral Cleia Teixeira CT   Brandão Raissa Anielle S RAS   Cerqueira Maia Jussara M JM   Petta Tirzah Braz TB  

Frontiers in pediatrics 20210624

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, potentially fatal autosomal-recessive immunodeficiency, and <i>STXBP2</i> mutations have been associated with FHL type 5 (FHL-5). Here, we report a case of a 2-year-old boy who presented with recurrent fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, and hypofibrinogenemia since 4 months of age. His genetic analysis revealed a compound heterozygosity of the <i>STXBP2</i> gene with a described pathogenic mutation, c.1247-1G>C  ...[more]

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