Skip to main content

Advertising Disclaimer »

Main menu

  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors/Reviewers
    • Submit Manuscript
    • Author Guidelines
    • Reviewer Guidelines
    • Open Access
    • Editorial Policies
  • Content
    • Current Issue
    • Online First
    • Archive
    • Blogs
    • Topic/Program Collections
    • AAP Meeting Abstracts
  • Pediatric Collections
    • COVID-19
    • Racism and Its Effects on Pediatric Health
    • More Collections...
  • AAP Policy
  • Supplements
  • Multimedia
    • Video Abstracts
    • Pediatrics On Call Podcast
  • Subscribe
  • Alerts
  • Careers
  • Other Publications
    • American Academy of Pediatrics

User menu

  • Log in
  • My Cart

Search

  • Advanced search
American Academy of Pediatrics

AAP Gateway

Advanced Search

AAP Logo

  • Log in
  • My Cart
  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors/Reviewers
    • Submit Manuscript
    • Author Guidelines
    • Reviewer Guidelines
    • Open Access
    • Editorial Policies
  • Content
    • Current Issue
    • Online First
    • Archive
    • Blogs
    • Topic/Program Collections
    • AAP Meeting Abstracts
  • Pediatric Collections
    • COVID-19
    • Racism and Its Effects on Pediatric Health
    • More Collections...
  • AAP Policy
  • Supplements
  • Multimedia
    • Video Abstracts
    • Pediatrics On Call Podcast
  • Subscribe
  • Alerts
  • Careers

Discover Pediatric Collections on COVID-19 and Racism and Its Effects on Pediatric Health

American Academy of Pediatrics
IMMUNOLOGY: IMMUNODEFICIENCY DISEASES

Mutation of a New Gene Encoding a Putative Pyrin-Like Protein Causes Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome

Akaluck Thatayatikom and Andrew H. Liu
Pediatrics August 2002, 110 (Supplement 2) 466;
Akaluck Thatayatikom
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Andrew H. Liu
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Info & Metrics
  • Comments
Loading
Download PDF

Purpose of the Study. To identify the genes for familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS).

Study Population. Three families with FCAS and 1 family with MWS.

Methods. Genomic DNA isolation, identification of coding region, DNA sequencing, and mutation detection. Protein prediction programs were also performed.

Results. Four distinct mutations of the CIAS1 Gene on chromosome 1q44 were identified. The gene encodes a newly identified protein called cryopyrin.

Conclusion. Mutations of the CIAS1 Gene encoding cryopyrin cause at least two distinct but similar cold-sensitive diseases, including FCAS and MWS.

Reviewers’ Comments. This exciting discovery has led to the identification of a new protein, aptly named “cryopryin,” that links cold temperature exposure to inflammation. In this report, mutations of the cryopyrin gene were identified in family members with 2 rare autosomal dominant conditions that are “autoinflammatory” disorders (ie, conditions with recurrent inflammatory symptoms in the absence of autoantibodies): FCAS and MWS. Recently, FCAS—also known as familial cold urticaria and familial polymorphous cold eruption—has been well-described by the same authors. The FCAS clinical picture includes: skin rash (100%), arthralgia (96%), fever (93%), conjunctivitis (84%), disease onset in the first 6 months of life (95%), an average time delay between cold exposure and the onset of symptoms of 2.5 hours, and an average episode duration of 12 hours (Hoffman HM, et al. J Allergy Clin Immunol. 2001;108:615–620). In contrast, MWS leads to progressive sensorineural deafness, amyloidosis of the kidneys and other organs, fevers, chills, rigors, malaise, and chronic recurrent urticaria. The reason for the 2 distinct clinical entities associated with mutations in the same gene still need to be explored. For more discussion, see a brief editorial entitled “A fever gene comes in from the cold” by Kastner and O’Shea on pages 241–242 of the same issue.

References

  1. Hoffman HM, Mueller JL, Broide DH, et al. Nature Genet.2001;29 :301– 305
    OpenUrlCrossRefPubMed
  • Copyright © 2002 by the American Academy of Pediatrics
PreviousNext
Back to top

Advertising Disclaimer »

In this issue

Pediatrics
Vol. 110, Issue Supplement 2
1 Aug 2002
  • Table of Contents
  • Index by author
View this article with LENS
PreviousNext
Email Article

Thank you for your interest in spreading the word on American Academy of Pediatrics.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Mutation of a New Gene Encoding a Putative Pyrin-Like Protein Causes Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome
(Your Name) has sent you a message from American Academy of Pediatrics
(Your Name) thought you would like to see the American Academy of Pediatrics web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Request Permissions
Article Alerts
Log in
You will be redirected to aap.org to login or to create your account.
Or Sign In to Email Alerts with your Email Address
Citation Tools
Mutation of a New Gene Encoding a Putative Pyrin-Like Protein Causes Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome
Akaluck Thatayatikom, Andrew H. Liu
Pediatrics Aug 2002, 110 (Supplement 2) 466;

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
Mutation of a New Gene Encoding a Putative Pyrin-Like Protein Causes Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome
Akaluck Thatayatikom, Andrew H. Liu
Pediatrics Aug 2002, 110 (Supplement 2) 466;
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Print
Download PDF
Insight Alerts
  • Table of Contents

Jump to section

  • Article
    • References
  • Info & Metrics
  • Comments

Related Articles

  • No related articles found.
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • The Carboxyl Terminus of the Granulocyte Colony-Stimulating Factor Receptor, Truncated in Patients with Severe Congenital Neutropenia/Acute Myeloid Leukemia, is Required for SH2-Containing Phosphatase-1 Suppression of Stat Activation
  • Mutation in the Class II Trans-Activator Leading to a Mild Immunodeficiency
Show more IMMUNOLOGY: IMMUNODEFICIENCY DISEASES

Similar Articles

Subjects

  • Allergy/Immunology
    • Immunologic Disorders
    • Allergy/Immunology
  • Journal Info
  • Editorial Board
  • Editorial Policies
  • Overview
  • Licensing Information
  • Authors/Reviewers
  • Author Guidelines
  • Submit My Manuscript
  • Open Access
  • Reviewer Guidelines
  • Librarians
  • Institutional Subscriptions
  • Usage Stats
  • Support
  • Contact Us
  • Subscribe
  • Resources
  • Media Kit
  • About
  • International Access
  • Terms of Use
  • Privacy Statement
  • FAQ
  • AAP.org
  • shopAAP
  • Follow American Academy of Pediatrics on Instagram
  • Visit American Academy of Pediatrics on Facebook
  • Follow American Academy of Pediatrics on Twitter
  • Follow American Academy of Pediatrics on Youtube
  • RSS
American Academy of Pediatrics

© 2021 American Academy of Pediatrics