English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis

Blaschek, A., Lohse, P., Huss, K., Borggraefe, I., Mueller-Felber, W., Heinen, F., et al. (2010). Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. Multiple Sclerosis, 16(12), 1517-1520. doi:10.1177/1352458510382933.

Item is

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Blaschek, A.1, Author
Lohse, P.1, Author
Huss, K.1, Author
Borggraefe, I.1, Author
Mueller-Felber, W.1, Author
Heinen, F.1, Author
Hohlfeld, R.2, Author           
Kümpfel, T.2, Author           
Affiliations:
1[Blaschek, A.; Huss, K.; Borggraefe, I.; Mueller-Felber, W.; Heinen, F.] Univ Munich, Dept Pediat Neurol & Dev Med, Dr von Haunersches Childrens Hosp, D-80337 Munich, Germany.; [Lohse, P.] Univ Munich, Dept Clin Chem Grosshadern, D-80337 Munich, Germany., ou_persistent22              
2Department: Neuroimmunology / Wekerle, MPI of Neurobiology, Max Planck Society, ou_1113547              

Content

show
hide
Free keywords: childhood; demyelinating autoimmune diseases; Familial Mediterranean Fever; genetics; multiple sclerosis; receptors; tumor necrosis factor; type 1
 Abstract: We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease. Genetic analyses revealed that she inherited a TNFRSF1A R92Q mutation from her mother and a pyrin E230K mutation from her father. To our knowledge, this is the first report of a patient with severe childhood multiple sclerosis and mutations in two genes which predispose to hereditary autoinflammatory disorders. We speculate that these mutations contribute to early multiple sclerosis manifestation and enhance the inflammatory damage inflicted by the autoimmune response.

Details

show
hide
Language(s): eng - English
 Dates: 2010-12
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 545137
ISI: 000284762800014
DOI: 10.1177/1352458510382933
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Multiple Sclerosis
  Alternative Title : Mult. Scler.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: LONDON : SAGE PUBLICATIONS LTD
Pages: - Volume / Issue: 16 (12) Sequence Number: - Start / End Page: 1517 - 1520 Identifier: ISSN: 1352-4585