hyperimmunoglobulinemia D periodic fever syndrome

Term ID

DOID:0081450

Synonyms

• HYPER-IgD SYNDROME

Definition

A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/22041426/

References

• GARD:2788
• MIM:260920
• ORDO:343

Ontology

Human Disease   ( DOID:0081450 )