Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Institute: MPI für Neurobiologie     Collection: Neuroimmunology     Display Documents



  history
ID: 545137.0, MPI für Neurobiologie / Neuroimmunology
Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis
Authors:Blaschek, A.; Lohse, P.; Huss, K.; Borggraefe, I.; Mueller-Felber, W.; Heinen, F.; Hohlfeld, R.; Kümpfel, T.
Language:English
Date of Publication (YYYY-MM-DD):2010-12
Title of Journal:Multiple Sclerosis
Journal Abbrev.:Mult. Scler.
Volume:16
Issue / Number:12
Start Page:1517
End Page:1520
Review Status:Peer-review
Audience:Not Specified
Abstract / Description: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.
Free Keywords:childhood; demyelinating autoimmune diseases; Familial Mediterranean Fever; genetics; multiple sclerosis; receptors; tumor necrosis factor; type 1
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Affiliations:MPI für Neurobiologie/Neuroimmunology (Wekerle)/Clinical Neuroimmunology (Hohlfeld)
External Affiliations:[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.
Identifiers:ISI:000284762800014 [ID No:1]
ISSN:1352-4585 [ID No:2]
DOI:10.1177/1352458510382933
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.