Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report

• Principais autores: Alyamama Kousa MD (Autor), Reem Ahmed MD (Autor), Mohammad Baraa Abu Bakr MD (Autor), Alaa Nouri Aldosh MD (Autor), Basheer Khalil MD, PhD (Autor)
• Formato: Livro
• Publicado em: SAGE Publishing, 2024-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

This case report presents a 10-year-old Syrian boy with concurrent mutations in the Mediterranean fever ( MEFV ) and mevalonate kinase ( MVK ) genes, resulting in overlapping symptoms of Familial Mediterranean Fever (FMF) and Hyperimmunoglobulinemia D syndrome (HIDS), both classified as Periodic Fev...