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Article

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

Journal of investigative medicine high impact case reports - 1 Jan 2000

Kousa Alyamama, Ahmed Reem, Abu Bakr Mohammad Baraa, Aldosh Alaa Nouri, Khalil Basheer

Abstract excerpt

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 Fever Syndromes (PFSs). The co-occurrence of these mutations within a single individual is highly unusual. He presented...

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Identifiers

PMID: 39417850
DOI: 10.1177/23247096241291929
PMCID: PMC11528672

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