Hyperimmunoglobulinemia D with periodic fever
ORPHA:343· ICD-10 E85.0
Definition
A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy