Publications by authors named "Alaa Nouri Aldosh"
Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.
J Investig Med High Impact Case Rep
October 2024
Article Synopsis
- A 10-year-old Syrian boy presents with mutations in both Mediterranean fever and mevalonate kinase genes, leading to symptoms of two rare conditions, Familial Mediterranean Fever (FMF) and Hyperimmunoglobulinemia D syndrome (HIDS).
- His symptoms include intermittent fever, recurrent respiratory infections, anemia, and growth failure, with an initial misdiagnosis of Still's disease and subsequent ineffective treatment.
- Genetic analysis shows significant mutations and the child's condition improves with corticosteroids and infliximab, though growth issues remain, raising questions about the interplay of the two genetic mutations in his clinical presentation.