María Soledad Caldirola Analía Gisela Seminario Paula Carolina Luna Renata Curciarello Guillermo Horacio Docena Nicolás Fernandez Escobar Guillermo Drelichman Marco Gattorno Adriana A de Jesus Raphaela Goldbach-Mansky María Isabel Gaillard Liliana Bezrodnik
10.3389/fped.2023.1108207
Front Pediatr
2023 Mar 10;11:1108207.
candle-like syndrome samd9l autoinflammatory syndromes case report primary immunodeficiencies sterile alpha motif domain containing 9 like
CC BY
https://pubmed.ncbi.nlm.nih.gov/36969289/
Case Reports
PMC10036571
36969289
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation
2023