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Hyper-IgD syndrome or mevalonate kinase deficiency
1Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Current Opinion in Rheumatology
|July 16, 2011
Summary
Recent research on mevalonate kinase deficiency (MKD) highlights the role of isoprenoid metabolism and IL-1 in hyper-IgD and periodic fever syndrome (HIDS). New models and findings shed light on inflammatory pathways.
Area of Science:
- Immunology
- Genetics
- Biochemistry
Background:
- Hyper-IgD and periodic fever syndrome (HIDS), also known as mevalonate kinase deficiency (MKD), is a monogenetic autoinflammatory disorder.
- MKD is characterized by inflammatory episodes linked to a deficiency in the mevalonate pathway.
Purpose of the Study:
- To provide an overview of primary research on mevalonate kinase deficiency published within the last two years.
- To synthesize recent findings on the pathophysiology and clinical observations of HIDS/MKD.
Main Methods:
- Literature review of primary research published in the past two years.
- Analysis of recent case reports and basic science articles.
- Examination of studies on chemically induced MKD mouse and cell models.
Main Results:
- Development of new chemically induced mouse and cell models for MKD research.
- Confirmation of the role of small GTPases and their isoprenylation in the inflammatory response in MKD.
- Emerging indications regarding the involvement of IgD in the syndrome.
Conclusions:
- Recent studies reinforce the central role of Interleukin-1 (IL-1) in HIDS.
- Intriguing hypotheses suggest a link between isoprenoid metabolism and the IL-1 pathway via geranylgeranylation, warranting further investigation.
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