Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

• Main Authors: Patricia Morán-Álvarez (Author), Alessandra Gianviti (Author), Francesca Diomedi-Camassei (Author), Monia Ginevrino (Author), Fabrizio de Benedetti (Author), Claudia Bracaglia (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants. RASopathies, a group of disorders caus...