Hyper-IgD syndrome

Common Name(s)

Hyper-IgD syndrome, Hyperimmunoglobulin D with periodic fever

Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case.   Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK).  It is inherited in an autosomal recessive manner.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyper-IgD syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyper-IgD syndrome" returned 14 free, full-text research articles on human participants. First 3 results:

Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.
 

Author(s): Anna Simon, Joost P H Drenth, Dietrich Matern, Eric S Goetzman, Elizabeth J Hager, K Michael Gibson

Journal: Mol. Genet. Metab.. 2013 Mar;108(3):166-71.

 

To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and Familial Mediterranean Fever (FMF).

Last Updated: 19 Feb 2013

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Renal amyloidosis due to hyper-IgD syndrome.
 

Author(s): Gioacchino Li Cavoli, Daniela Passantino, Calogera Tortorici, Luisa Bono, Angelo Ferrantelli, Carlo Giammarresi, Ugo Rotolo

Journal: Nefrologia. 2012 ;32(6):865-6.

 

Last Updated: 21 Nov 2012

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Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).
 

Author(s): Elizabeth J Hager, Jon D Piganelli, Hubert M Tse, K Michael Gibson

Journal: J. Inherit. Metab. Dis.. 2012 Jan;35(1):159-68.

 

We sought to determine the activation status and proliferative capacities of splenic lymphocyte populations from a mevalonate kinase-deficient mouse model of hyper-IgD syndrome (HIDS). We previously reported that murine mevalonate kinase gene ablation was embryonic lethal for homozygous ...

Last Updated: 2 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyper-IgD syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency
 

Status: Recruiting

Condition Summary: Hyper IgD Syndrome; Mevalonate Kinase Deficiency

 

Last Updated: 30 Mar 2012

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Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
 

Status: Recruiting

Condition Summary: Mevalonic Aciduria; Mevalonate Kinase Deficiency; Immune System Diseases; Periodic Fever Syndromes, Hereditary; Lipid Metabolism, Inborn Errors

 

Last Updated: 21 Mar 2012

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Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
 

Status: Recruiting

Condition Summary: Periodic Disease

 

Last Updated: 14 Mar 2014

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