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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021
Fag:
Pediatrics
Online adgang: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
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