1. Expanding the Phenotypic Spectrum of Lupus Erythematosus in Aicardi-Goutières Syndrome.
- Author
-
Ramantani, Georgia, Kohlhase, Jürgen, Hertzberg, Christoph, Innes, A. Micheil, Engel, Kerstin, Hunger, Susan, Borozdin, Wiktor, Mah, Jean K., Ungerath, Kristina, Walkenhorst, Hartmut, Richardt, Hans-Helmut, Buckard, Johannes, Bevot, Andrea, Siegel, Corinna, von Stülpnagel, Celina, Ikonomidou, Chrysanthy, Thomas, Kara, Proud, Virginia, Niemann, Frank, and Wieczorek, Dagmar
- Subjects
GENETIC disorders ,HUMAN abnormalities ,PHENOTYPES ,SYSTEMIC lupus erythematosus ,MEDICAL genetics ,PATIENTS - Abstract
The article presents a study on the phenotypic spectrum of the Aicardi-Goutières syndrome (AGS), a congenital infection. It states that 26 patients were examined and their laboratory and clinical record were obtained for AGS clinical diagnostic criteria. The results show that among 20 AGS patients, 12 mutations were considered novel while high prevalence of features were revealed which are commonly diagnosed with systemic lupus erythematosus (SLE) patients.
- Published
- 2010
- Full Text
- View/download PDF