Hyper-IgD periodic fever syndrome

Hyper-IgD periodic fever syndrome is a rare, autosomal recessive autoinflammatory disorder representing the milder phenotypic presentation of mevalonate kinase deficiency

Hyper-IgD periodic fever syndrome is a rare, autosomal recessive autoinflammatory disorder representing the milder phenotypic presentation of mevalonate kinase deficiency

Primarily manifesting during infancy or early childhood, the condition affects systemic innate immunity and is most frequently identified in individuals of Northern European descent Clinically, affected patients experience recurrent febrile episodes—frequently triggered by vaccinations, infection, or physiologic stress—lasting three to seven days and accompanied by painful cervical lymphadenopathy, abdominal pain, aphthous stomatitis, arthralgia, and cutaneous eruptions, alongside persistently e...

Primarily manifesting during infancy or early childhood, the condition affects systemic innate immunity and is most frequently identified in individuals of Northern European descent It is pathophysiologically driven by loss-of-function variants in the *MVK* gene, which disrupt the mevalonate-cholesterol biosynthesis pathway and precipitate excessive, unprovoked interleukin-1–driven systemic inflammation Clinically, affected patients experience recurrent febrile episodes—frequently triggered by v...

It is pathophysiologically driven by loss-of-function variants in the *MVK* gene, which disrupt the mevalonate-cholesterol biosynthesis pathway and precipitate excessive, unprovoked interleukin-1–driven systemic inflammation

Clinically, affected patients experience recurrent febrile episodes—frequently triggered by vaccinations, infection, or physiologic stress—lasting three to seven days and accompanied by painful cervical lymphadenopathy, abdominal pain, aphthous stomatitis, arthralgia, and cutaneous eruptions, alongside persistently elevated serum immunoglobulin D levels in most individuals