A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil

OBJECTIVE: Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that are characterized by mutations in genes that regulate innate immunity and whose typical features are systemic inflammation without high-titer autoantibodies or antigen-specific T cells. Skin and bone inflammat...

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Autors principals: Jesus, Adriana A., Osman, Mazen, Silva, Clovis A., Kim, Peter W., Pham, Tuyet-Hang, Gadina, Massimo, Yang, Barbara, Bertola, Débora R., Carneiro-Sampaio, Magda, Ferguson, Polly J., Renshaw, Blair R., Schooley, Ken, Brown, Michael, Al-Dosari, Asma, Al-Alami, Jamil, Sims, John E., Goldbach-Mansky, Raphaela, El-Shanti, Hatem
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3463867/
https://ncbi.nlm.nih.gov/pubmed/22127713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.30588
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