Hyper-IgD syndrome is an autosomal recessive disorder caused by mutations of the MVK gene. It is characterized clinically by recurrent fever, lymphadenopathy, cutaneous rash and arthralgia and chemically by elevated immunoglobulin D levels.
Mevalonate kinase-associated inflammatory diseases | ||||
Hyper-IgD syndrome | ||||
MVK | ||||
Mevalonic aciduria | ||||
Porokeratosis 3 | ||||
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OMIM.ORG article Omim 260920 |
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Orphanet article Orphanet ID 343 |
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Wikipedia article Wikipedia EN (Hyper-IgD_syndrome) |