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

• मुख्य लेखकों: María Soledad Caldirola (लेखक), Analía Gisela Seminario (लेखक), Paula Carolina Luna (लेखक), Renata Curciarello (लेखक), Guillermo Horacio Docena (लेखक), Nicolás Fernandez Escobar (लेखक), Guillermo Drelichman (लेखक), Marco Gattorno (लेखक), Adriana A. de Jesus (लेखक), Raphaela Goldbach-Mansky (लेखक), María Isabel Gaillard (लेखक), Liliana Bezrodnik (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...