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

• Main Authors: Vera Maria Dantas (Author), Cassandra Teixeira Valle (Author), Roberta Piccin de Oliveira (Author), Mylena Taíse Azevedo L. Bezerra (Author), Cleia Teixeira do Amaral (Author), Raissa Anielle S. Brandão (Author), Jussara M. Cerqueira Maia (Author), Tirzah Braz Petta (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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, hyp...