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

• المؤلفون الرئيسيون: Patricia Morán-Álvarez (مؤلف), Alessandra Gianviti (مؤلف), Francesca Diomedi-Camassei (مؤلف), Monia Ginevrino (مؤلف), Fabrizio de Benedetti (مؤلف), Claudia Bracaglia (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2024-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...