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

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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Pediatrics
Subjects:
pancytopenia
hepatosplenomegaly
hyperferritinemia
STXBP2
familial hemophagocytic lymphohistiocytosis type 5
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.633996/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.633996/full

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