Case report: Novel variants in RELA associated with familial Behcet’s-like disease

RELA haploinsufficiency is a recently described autoinflammatory condition presenting with intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 protein, one of five NF-κB family transcription factors. As RELA is an essential regulator of mucosal homeostasis, haploinsuffic...

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Detalles Bibliográficos
Autores principales: An, Jason W., Pimpale-Chavan, Pallavi, Stone, Deborah L., Bandeira, Marcia, Dedeoglu, Fatma, Lo, Jeffrey, Bohnsack, John, Rosenzweig, Sofia, Schnappauf, Oskar, Dissanayake, Dilan, Hiraki, Linda T., Kastner, Daniel L., Pelajo, Christina, Laxer, Ronald M., Aksentijevich, Ivona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011480/
https://www.ncbi.nlm.nih.gov/pubmed/36926348
http://dx.doi.org/10.3389/fimmu.2023.1127085

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