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Learn About Familial Cold Autoinflammatory Syndrome

What is the definition of Familial Cold Autoinflammatory Syndrome?
Familial cold autoinflammatory syndrome is a type of periodic fever syndrome. Symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. It is inherited in an autosomal dominant manner and can be caused by genetic changes in the NLRP3 or NLRP12 genes.
What are the alternative names for Familial Cold Autoinflammatory Syndrome?
  • Familial cold autoinflammatory syndrome
  • FCAS
  • Familial cold urticaria
  • Familial polymorphous cold eruption
Who are the top Familial Cold Autoinflammatory Syndrome Local Doctors?
Eric Hachulla
Elite in Familial Cold Autoinflammatory Syndrome
Elite in Familial Cold Autoinflammatory Syndrome

CHU Caen

Caen, FR 

Eric Hachulla practices in Caen, France. Mr. Hachulla is rated as an Elite expert by MediFind in the treatment of Familial Cold Autoinflammatory Syndrome. His top areas of expertise are Systemic Sclerosis (SSc), Scleroderma, Sjogren Syndrome, Kidney Transplant, and Lung Transplant.

Elite in Familial Cold Autoinflammatory Syndrome
Elite in Familial Cold Autoinflammatory Syndrome
Hoppe Seyler Str. 1, 
Tuebingen, BW, DE 

Jasmin Deschner-Kuemmerle practices in Tuebingen, Germany. Ms. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Familial Cold Autoinflammatory Syndrome. Her top areas of expertise are Familial Cold Autoinflammatory Syndrome, Neonatal Onset Multisystem Inflammatory Disease, Muckle-Wells Syndrome, and Mevalonate Kinase Deficiency.

 
 
 
 
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Elite in Familial Cold Autoinflammatory Syndrome
Elite in Familial Cold Autoinflammatory Syndrome
Paris, FR 

Isabelle Paut-Kone practices in Paris, France. Ms. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Familial Cold Autoinflammatory Syndrome. Her top areas of expertise are Mevalonate Kinase Deficiency, Muckle-Wells Syndrome, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, and Vitrectomy.

What are the latest Familial Cold Autoinflammatory Syndrome Clinical Trials?
Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)

Background: Some diseases cause chronic inflammation with intermittent flares in the body. These are called autoinflammatory diseases. They can cause fevers, rashes, ulcers, and other problems. Researchers want to learn more about the causes and effects of these diseases. They hope this will improve how the disease is managed in the future.

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A Phase 1 Study of Repeat PET/CT Imaging in People With CAPS and Anakinra-Induced Amyloidosis Using Amyloid-Reactive Peptide 124I-AT-01 (124I-p5+14, Iodine-124I-Evuzamitide) to Measure Changes in Organ-Specific Amyloid Load

Background: Anakinra is a drug used to treat people with certain diseases that affect their immune systems. Sometimes anakinra can cause proteins under the skin to clump together. These clumps are called amyloidosis; they can spread to other organs. The only way to diagnose amyloidosis is to remove a piece of tissue (biopsy). Researchers want to find a way to locate amyloidosis in internal organs using positr...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center