Frontiers in Pediatrics (Jun 2021)

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

  • Vera Maria Dantas,
  • Cassandra Teixeira Valle,
  • Roberta Piccin de Oliveira,
  • Mylena Taíse Azevedo L. Bezerra,
  • Cleia Teixeira do Amaral,
  • Raissa Anielle S. Brandão,
  • Jussara M. Cerqueira Maia,
  • Tirzah Braz Petta

DOI
https://doi.org/10.3389/fped.2021.633996
Journal volume & issue
Vol. 9

Abstract

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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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