A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

BACKGROUND: Deficiency of the natural antagonist of interleukin-1 was first described in 2009 and so far 20 patients has been reported. In Brazil just two cases have been reported both carrying the same homozygous 15 bp deletion. Blocking interleukin-1 has changed rate survival for DIRA patients. Th...

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Detalles Bibliográficos
Autores principales: Mendonça, Leonardo Oliveira, Grossi, Alice, Caroli, Francesco, de Oliveira, Robson Aguiar, Kalil, Jorge, Castro, Fabio Fernandes Morato, Pontillo, Alessandra, Ceccherini, Isabella, Barros, Myrthes Anna Maragna Toledo, Gattorno, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439677/
https://www.ncbi.nlm.nih.gov/pubmed/32819369
http://dx.doi.org/10.1186/s12969-020-00454-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439677/
https://www.ncbi.nlm.nih.gov/pubmed/32819369
http://dx.doi.org/10.1186/s12969-020-00454-5

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