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Κυριακή 1 Ιανουαρίου 2017

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

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Publication date: Available online 31 December 2016
Source:Clinical Immunology
Author(s): Robert J. Ragotte, Anita Dhanrajani, Julian Pleydell-Pearce, Kate L. Del Bel, Maja Tarailo-Graovac, Clara van Karnebeek, Jefferson Terry, Christof Senger, Margaret L. McKinnon, Michael Seear, Julie S. Prendiville, Lori B. Tucker, Kristin Houghton, David A. Cabral, Jaime Guzman, Ross E. Petty, Kelly L. Brown, Jenny Tekano, John Wu, Kimberly A. Morishita, Stuart E. Turvey
ObjectivesClinicians 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 resultsBy harnessing the transformative power of next generation sequencing, we made the unifying diagnosis of RAS-associated autoimmune leukoproliferative disease (RALD), caused by the somatic gain-of-function p.G13C KRAS mutation, in a boy with the seemingly unrelated immune dysregulatory conditions of Rosai-Dorfman and systemic lupus erythematosis (SLE).ConclusionsThis case expands our understanding of the clinical phenotypes associated with the extremely rare condition of RALD, and emphasizes the importance of always considering the possibility of a monogenic cause for autoimmunity, particularly when the disease manifestations begin early in life and do not follow a typical clinical course.



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