Hyper-IgD syndrome or mevalonate kinase deficiency.

Abstract:

PURPOSE OF REVIEW:The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2 years. RECENT FINDINGS:Besides an inventory of a number of recent case reports, literature review shows there are several interesting developments in the basic field of research. First, a group of articles was recently published on chemically instead of genetically induced MKD mouse and cell models, investigating the effects of several isoprenoid pathway intermediates. Second, another study confirms a role for small GTPases and their isoprenylation in the inflammatory response in mevalonate kinase deficiency. Lastly, there are now, finally, modest new indications about the role of IgD. SUMMARY:Both pathophysiological studies and clinical observations in the last 2 years have supported the central role of IL-1 in HIDS. There are some intriguing results and hypotheses about the link between isoprenoid metabolism and the IL-1 pathway through geranylgeranylation that deserve to be further examined.

journal_name

Curr Opin Rheumatol

authors

Stoffels M,Simon A

doi

10.1097/BOR.0b013e328349c3b1

subject

Has Abstract

pub_date

2011-09-01 00:00:00

pages

419-23

issue

5

eissn

1040-8711

issn

1531-6963

journal_volume

23

pub_type

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