Journal
FRONTIERS IN PEDIATRICS
Volume 9, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fped.2021.633996
Keywords
pancytopenia; hepatosplenomegaly; hyperferritinemia; STXBP2; familial hemophagocytic lymphohistiocytosis type 5
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Funding
- Jeffrey Modell Foundation
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The study reported a case of a 2-year-old boy diagnosed with Familial Hemophagocytic Lymphohistiocytosis (FHL) type 5. Genetic analysis revealed a compound heterozygosity of STXBP2 gene, and the patient responded well to HLH-2004 protocol treatment with the possibility of hematopoietic stem cell transplantation (HSCT) in the future.
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).
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