Muckle-Wells syndrome

Common Name(s)

Muckle-Wells syndrome

Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes a medication called Anakinra during acute episodes.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muckle-Wells 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

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

Last Updated: 5 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muckle-Wells 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

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

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General Support Organizations

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General Resources

Comparison Chart of Systemic Autoinflammatory DIseases

This comparative chart of Autoinflammatory Diseases lists symptoms, lab findings, genetic mutations and images for each disease.

Updated 15 Aug 2013

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Healthier Ever After (injection tips book & program)

This child-friendly book is for patients and their families to learn how to manage their injectable medications, and has a program to help children to discuss and make a plan of care, and goals with rewards to chart on a reusable white board page.

Updated 6 May 2015

Open Doc
 
 
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Arts and Literature

CAPS medical guidebook.

Medical guidebook about Cryopyrin-Associated Periodic syndromes (CAPS).

Updated 6 May 2015

Open Doc
 
 
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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 "Muckle-Wells syndrome" returned 23 free, full-text research articles on human participants. First 3 results:

Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.
 

Author(s): Jasmin B Kuemmerle-Deschner, Samuel Dembi Samba, Pascal N Tyrrell, Isabelle Koné-Paut, Isabelle Marie, Norbert Deschner, Susanne M Benseler

Journal: Arthritis Care Res (Hoboken). 2014 May;66(5):765-72.

 

The diagnosis of Muckle-Wells syndrome (MWS) remains challenging due to the clinical heterogeneity and lack of diagnostic criteria. The aims of this study were to describe key elements of the diagnostic evaluation process in MWS and compare identified variables between patients diagnosed ...

Last Updated: 23 Apr 2014

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Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.
 

Author(s): Jasmin B Kuemmerle-Deschner, Helmut Wittkowski, Pascal N Tyrrell, Ina Koetter, Peter Lohse, Katharina Ummenhofer, Fabian Reess, Sandra Hansmann, Assen Koitschev, Christoph Deuter, Anja Bialkowski, Dirk Foell, Susanne M Benseler

Journal: Arthritis Res. Ther.. 2013 ;15(3):R64.

 

Muckle-Wells syndrome (MWS) is an autoinflammatory disease characterized by excessive interleukin-1 (IL-1) release, resulting in recurrent fevers, sensorineural hearing loss, and amyloidosis. IL-1 inhibition with anakinra, an IL-1 receptor antagonist, improves clinical symptoms and ...

Last Updated: 30 Apr 2014

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Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation).
 

Author(s): Luis Bolaños, Juan M Mosquera-Reboredo, Mercedes Cao, Tamara Ferreiro, Beatriz Veleiro, Francisco Valdés, Eduardo Vázquez-Martul

Journal: Nefrologia. 2013 ;33(2):266-71.

 

Last Updated: 20 Mar 2013

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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 "Muckle-Wells syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Biological and clinical aspects of Muckle-Wells syndrome].
 

Author(s): Tetsuo Kubota, Ryuji Koike

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):114-22.

 

Muckle-Wells syndrome (MWS), as well as familial cold autoinflammatory syndrome (FCAS) and chronic infantile neurological cutaneous and articular syndrome (CINCA), arises from a missense mutation in the CIAS1 gene. Current progress of biology revealed that NALP3, a protein coded by ...

Last Updated: 2 May 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.