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Guideline [Organ-specific diagnosis in patients with systemic sclerosis: Recommendations of the German Network for Systemic Sclerosis (DNSS)] 2008
Hunzelmann N, Genth E, Krieg T, Meurer M, Melchers I, Moinzadeh P, Pfeiffer C, Riemekasten G, Schulze-Lohoff E, Sunderkoetter C, Müller-Ladner U, Anonymous00049. · Klinik und Poliklinik für Dermatologie und Venerologie, Klinikum der Universität zu Köln, 50924 Köln, Deutschland. · Z Rheumatol. · Pubmed #18418613 No free full text.
Abstract: The diagnosis and therapy of systemic sclerosis (SSc) is demanding due to its nature as a multisystem disease and its chronic, severe course. To date, there are no generally accepted recommendations for diagnostic work-up either for the time of initial disease diagnosis or for the regular follow-up clinical examinations and diagnostic procedures required. However, due to recent advances, e.g. in the therapy of pulmonary arterial hypertension, regular examinations may contribute to early recognition and treatment of developing organ involvement. This manuscript describes the recommendations for initial and follow-up organ-specific clinical examinations and diagnostic work-up as compiled and carried out by the German Network for Systemic Scleroderma [Deutsche Netzwerk für systemische Sklerodermie (DNSS)].
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Article Enhanced frequency of a PTPRC (CD45) exon A mutation (77C-->G) in systemic sclerosis. 2003
Schwinzer R, Witte T, Hundrieser J, Ehlers S, Momot T, Hunzelmann N, Krieg T, Schmidt RE, Wonigeit K. · Transplantionslabor, Klinik für Viszeral-und Transplantationschirugie, Zentrum Chirugie. · Genes Immun. · Pubmed #12618866 No free full text.
Abstract: A point mutation in exon A (C to G transversion at position 77) of human PTPRC (CD45) has recently been associated with the development of multiple sclerosis (MS) for at least a subgroup of patients. In the present report, we studied the frequency of the 77C-->G transversion in two other autoimmune diseases namely systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). The mutation was found with significantly enhanced frequency in patients suffering from SSc suggesting that PTPRC could play a role as susceptibility gene not only in MS but also in other autoimmune diseases. Further understanding of the mode of interaction of mutant PTPRC with other susceptibility genes may uncover mechanisms common in various autoimmune disorders.
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