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

Frontiers in Pediatrics

article

Vera Maria Dantas¹  Cassandra Teixeira Valle²  Roberta Piccin de Oliveira³  Mylena Taíse Azevedo L. Bezerra⁴  Cleia Teixeira do Amaral⁵  Raissa Anielle S. Brandão⁵  Jussara M. Cerqueira Maia⁶  Tirzah Braz Petta⁷ 

[1] Department of Pediatrics, Pediatric Immunology Division of Onofre Lopes University Hospital, Federal University of Rio Grande do Norte;Pediatric Hematology Division of Onofre Lopes University Hospital, Federal University of Rio Grande do Norte;Pediatric Allergy-Immunology Division, Onofre Lopes University Hospital, Federal University of Rio Grande do Norte;Pediatric Infectiology Division, Onofre Lopes University Hospital, Federal University of Rio Grande do Norte;Pediatric Pneumology Division, Onofre Lopes University Hospital, Federal University of Rio Grande do Norte;Department of Pediatrics, Pediatric Gastroenterology Division of Onofre Lopes University Hospital, Federal University of Rio Grande do Norte;Department of Cellular Biology and Genetics, Federal University of Rio Grande do Norte

关键词: pancytopenia;    hepatosplenomegaly;    hyperferritinemia;    STXBP2;    familial hemophagocytic lymphohistiocytosis type 5;   

DOI  :  10.3389/fped.2021.633996

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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).

【 授权许可】

CC BY