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

• Main Authors: María Soledad Caldirola (Author), Analía Gisela Seminario (Author), Paula Carolina Luna (Author), Renata Curciarello (Author), Guillermo Horacio Docena (Author), Nicolás Fernandez Escobar (Author), Guillermo Drelichman (Author), Marco Gattorno (Author), Adriana A. de Jesus (Author), Raphaela Goldbach-Mansky (Author), María Isabel Gaillard (Author), Liliana Bezrodnik (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...