Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1 + 479 word(s) 479 2020-12-15 07:23:34

Video Upload Options

Do you have a full video?

Confirm

Are you sure to Delete?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yin, N. Familial Cold Autoinflammatory Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5619 (accessed on 28 March 2024).
Yin N. Familial Cold Autoinflammatory Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5619. Accessed March 28, 2024.
Yin, Nicole. "Familial Cold Autoinflammatory Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5619 (accessed March 28, 2024).
Yin, N. (2020, December 25). Familial Cold Autoinflammatory Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5619
Yin, Nicole. "Familial Cold Autoinflammatory Syndrome." Encyclopedia. Web. 25 December, 2020.
Familial Cold Autoinflammatory Syndrome
Edit

Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.

genetic conditions

1. Introduction

People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days.

In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur.

In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder.

2. Frequency

Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people.

3. Causes

Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1.

Cryopyrin and monarch-1 belong to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues.

Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps start the inflammatory process. Mutations in the NLRP3 gene result in a hyperactive cryopyrin protein that inappropriately triggers an inflammatory response.

Monarch-1 is involved in the inhibition of the inflammatory response. Mutations in the NLRP12 gene appear to reduce the ability of the monarch-1 protein to inhibit inflammation.

Impairment of the body's mechanisms for controlling inflammation results in the episodes of skin rash, fever, and joint pain seen in familial cold autoinflammatory syndrome. It is unclear why episodes are triggered by cold exposure in this disorder.

4. Inheritance

This condition is inherited in an autosomal dominant pattern from an affected parent; one copy of the altered gene in each cell is sufficient to cause the disorder.

5. Other Names for This Condition

  • cold hypersensitivity
  • familial cold urticaria
  • familial cold-induced autoinflammatory syndrome
  • FCAS
  • FCU

References

  1. Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z,Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinicalcontinuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007 Apr;56(4):1273-1285. doi:10.1002/art.22491.
  2. Church LD, Cook GP, McDermott MF. Primer: inflammasomes and interleukin 1beta in inflammatory disorders. Nat Clin Pract Rheumatol. 2008 Jan;4(1):34-42. doi:10.1038/ncprheum0681. Review.
  3. Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P,Boulinguez S, Domergues JP, Delpech M, Grateau G. New mutations of CIAS1 that areresponsible for Muckle-Wells syndrome and familial cold urticaria: a novelmutation underlies both syndromes. Am J Hum Genet. 2002 Jun;70(6):1498-506.
  4. Farasat S, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical andgenetic advances. Arch Dermatol. 2008 Mar;144(3):392-402. Review.
  5. Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA,Kolodner RD. Fine structure mapping of CIAS1: identification of an ancestralhaplotype and a common FCAS mutation, L353P. Hum Genet. 2003 Feb;112(2):209-16.
  6. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a newgene encoding a putative pyrin-like protein causes familial cold autoinflammatorysyndrome and Muckle-Wells syndrome. Nat Genet. 2001 Nov;29(3):301-5.
  7. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome:phenotype and genotype of an autosomal dominant periodic fever. J Allergy ClinImmunol. 2001 Oct;108(4):615-20.
  8. Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T,Grateau G, Alnemri ES, Amselem S. Mutations in NALP12 cause hereditary periodicfever syndromes. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9. doi:10.1073/pnas.0708616105.
  9. Kanazawa N, Furukawa F. Autoinflammatory syndromes with a dermatologicalperspective. J Dermatol. 2007 Sep;34(9):601-18. Review.
  10. Stankovic K, Grateau G. Auto inflammatory syndromes: Diagnosis and treatment. Joint Bone Spine. 2007 Dec;74(6):544-50.
  11. Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditaryautoinflammatory diseases. Curr Drug Targets Inflamm Allergy. 2005Feb;4(1):77-80. Review.
More
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 407
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
1000/1000