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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Dantas, Vera Maria, Valle, Cassandra Teixeira, de Oliveira, Roberta Piccin, Bezerra, Mylena Taíse Azevedo L., do Amaral, Cleia Teixeira, Brandão, Raissa Anielle S., Cerqueira Maia, Jussara M., Petta, Tirzah Braz
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8264126/
https://ncbi.nlm.nih.gov/pubmed/34249802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.633996
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados