Hyper-IgD syndrome

Common Name(s)

Hyper-IgD syndrome, Hyperimmunoglobulin D with periodic fever

Hyperimmunoglobulinemia D syndrome (HIDS) is a rare genetic condition that causes recurring episodes of elevated body temperature (fevers) from infancy through childhood that tend to become less frequent in adulthood. The fevers usually last 3 to 6 days and may occur spontaneously or in response to stress or vaccinations. During fevers, individuals may have mouth sores, abdominal pain, joint pain, headache, rashes, and nausea. Children with the disorder typically may not reach developmental milestones at the expected time (developmental delays). Other features may include problems with movement and balance (ataxia), eye problems, seizures, and a high number of immune system proteins that help fight infections (immunoglobulins) in the blood. Some affected people may have protein deposits in the kidney (amyloidosis) that may cause kidney damage.

HIDS is caused by changes (mutations) in the MVK gene, which provides instructions for the body to make an enzyme called mevalonate kinase. This enzyme is involved with making cholesterol, a substance that is important for many functions in the body. Mutations in the MVK gene cause the body to decrease production of the enzyme (mevalonate kinase enzyme deficiency) and, in turn, not produce enough cholesterol. HIDS is inherited in an autosomal recessive way, meaning a child needs a mutation in both of their MVK gene copies to have the condition. HIDS is the less severe form of mevalonate kinase enzyme deficiency. Another condition, known as mevalonic aciduria (MVA), is the more severe form of mevalonate kinase enzyme deficiency and is discussed in a separate entry.

There are currently no specific treatments for MVA, but there are some medications that can help symptoms during fevers. If your child has been diagnosed with HIDS, talk with their doctor about ways to manage symptoms. Support groups can provide additional information and connect you with others affected by HIDS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Autoinflammatory Alliance

The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases. We started in 2006 under the name, The NOMID Alliance with the same basic goal: to help patients with CAPS and other autoinflammatory diseases. We have a IRS approval as tax-exempt under both names.

Last Updated: 24 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Autoinflammatory Alliance

The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases. We started in 2006 under the name, The NOMID Alliance with the same basic goal: to help patients with CAPS and other autoinflammatory diseases. We have a IRS approval as tax-exempt under both names.

http://www.autoinflammatory.org

Last Updated: 24 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
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

Go To URL
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

Go To URL

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 1 free, full-text review articles on human participants. First 3 results:

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.
 

Author(s): Pınar Gençpınar, Balahan B Makay, Marco Gattorno, Francesco Caroli, Erbil Ünsal

Journal: Turk. J. Pediatr.. ;54(6):641-4.

 

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The ...

Last Updated: 22 May 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL
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

Go to URL