Hyperimmunoglobulinemia D with periodic fever
Engelsk navn: Hyperimmunoglobulinemia D with periodic fever
Engelske synonym: HIDS,Hyper-IgD syndrome,Hyperimmunoglobinemia D with recurrent fever,Hyperimmunoglobulinemia D syndrome,Partial mevalonate kinase deficiency
Definisjon
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.
Fra Orphanet
ORPHA: 343
Klassifiseringsnivå: Subtype of disorder
ICD-10: E85.0