Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Earl...

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Detalles Bibliográficos
Autores principales: Caldirola, María Soledad, Seminario, Analía Gisela, Luna, Paula Carolina, Curciarello, Renata, Docena, Guillermo Horacio, Fernandez Escobar, Nicolás, Drelichman, Guillermo, Gattorno, Marco, de Jesus, Adriana A., Goldbach-Mansky, Raphaela, Gaillard, María Isabel, Bezrodnik, Liliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036571/
https://www.ncbi.nlm.nih.gov/pubmed/36969289
http://dx.doi.org/10.3389/fped.2023.1108207

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