1. The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus
- Author
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Jefferson Terry, David A. Cabral, Kimberly Morishita, Robert J. Ragotte, Jaime Guzman, Kate L. Del Bel, Ross E. Petty, Julian Pleydell-Pearce, Margaret L. McKinnon, John K. Wu, Christof Senger, Julie S. Prendiville, Anita Dhanrajani, Stuart E. Turvey, Kelly L. Brown, Clara D.M. van Karnebeek, Lori B. Tucker, Jenny Tekano, Kristin Houghton, Maja Tarailo-Graovac, Michael Seear, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Cellular & Molecular Mechanisms, and Paediatric Metabolic Diseases
- Subjects
0301 basic medicine ,Lupus erythematosus ,business.industry ,Immunology ,Disease ,medicine.disease ,medicine.disease_cause ,Autoimmunity ,03 medical and health sciences ,Histiocytosis ,030104 developmental biology ,Immune system ,Germline mutation ,medicine ,Etiology ,Immunology and Allergy ,KRAS ,business - Abstract
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 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 erythematosus (SLE). Conclusions: This 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. Crown Copyright (C) 2016 Published by Elsevier Inc All rights reserved
- Published
- 2017
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