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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264126/
https://www.ncbi.nlm.nih.gov/pubmed/34249802
http://dx.doi.org/10.3389/fped.2021.633996

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264126/
https://www.ncbi.nlm.nih.gov/pubmed/34249802
http://dx.doi.org/10.3389/fped.2021.633996

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