Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype
✍ Scribed by Santos, Joana A.; Aróstegui, Juan I.; Brito, Maria J.; Neves, Conceição; Conde, Marta
- Book ID
- 122326917
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 477 KB
- Volume
- 542
- Category
- Article
- ISSN
- 0378-1119
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Communicated by William S. Sly Mucopolysaccharidosis type I (MI'S-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase a-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MI'S-
## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).