Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report

Abstract Background Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life. Treatment is mainly supportive, and there are successful rep...

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Principais autores:	Elisamia Ngowi, Rukhsar Osman, Hajaj Mohamed Salum, Maria Bulimba, Evance Godfrey, Aika Abia Shoo, Nahida Z. Walli, Mohamedraza Ebrahim, Mariam Noorani, Peter M. Swai, Francis F. Furia
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2025-10-01
Serija:	Journal of Medical Case Reports
Teme:	Hyper-IgD syndrome (HIDS) Recurrent fever Autoinflammatory Mevalonate kinase deficiency (MKD) Mevalonate kinase gene (MVK) Mevalonic aciduria (MVA)
Online dostop:	https://doi.org/10.1186/s13256-025-05637-w
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