Hyper-IgD syndrome

Also known as: HIDS; Mevalonate kinase deficiency

Recurrent fever with lymphadenopathy and elevated IgD.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Autoinflammatory disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: MVK

Etiology & mechanism

Deficiency of mevalonate kinase.

Gene(s) involved (1)

MVK

Symptoms & signs (7)

abdominal painaphthous ulcersarthralgiacervical lymphadenopathydiarrhearashrecurrent fever

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.