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- Title
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
- Authors
Ammouri, W.; Cuisset, L.; Rouaghe, S.; Rolland, M.-O.; Delpech, M.; Grateau, G.; Ravet, N.
- Abstract
Objective. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was originally defined by the presence of a high serum level of immunoglobulin D associated with recurrent fever. Since the discovery of the mevalonate kinase gene (MVK) gene encoding the mevalonate kinase enzyme, most patients with a clinical diagnostic of HIDS are now found to have a mevalonate kinase deficiency based on metabolic and genetic data. We aimed to asses the value of a high IgD serum level for the diagnosis of HIDS in a cohort of patients with a phenotype of recurrent fever, and to characterize patients with a high IgD serum level without mevalonate kinase mutation.
- Subjects
IMMUNOGLOBULIN D; SYNDROMES; FEVER; GENETICS; GENETIC mutation
- Publication
Rheumatology, 2007, Vol 46, Issue 10, p1597
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/kem200