Article
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Clinical immunology (Orlando, Fla.) - 1 Feb 2017
Ragotte Robert J, Dhanrajani Anita, Pleydell-Pearce Julian, Del Bel Kate L, Tarailo-Graovac Maja, van Karnebeek Clara, Terry Jefferson, Senger Christof, McKinnon Margaret L, Seear Michael, Prendiville Julie S, Tucker Lori B, Houghton Kristin, Cabral David A, Guzman Jaime, Petty Ross E, Brown Kelly L, Tekano Jenny, Wu John, Morishita Kimberly A, Turvey Stuart E
Abstract excerpt
OBJECTIVES: Clinicians need to be aware of the growing list of defined monogenic etiologies of autoimmune diseases. This is particularly relevant when evaluating children, as these rare monogenic forms of autoimmunity tend to present very early in life. METHODS AND RESULTS: By harnessing the transformative power of next generation sequencing, we made the unifying diagnosis of RAS-associated autoimmune...
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