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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Pediatrics
Subjects:
autoinflammatory syndromes
CANDLE-like syndrome
primary immunodeficiencies
SAMD9L
sterile alpha motif domain containing 9 like
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full

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