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Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31.

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

Author information

1
Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
2
Bruins Pediatric Centre, Chilliwack General Hospital, Chilliwack, BC, Canada.
3
Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
4
Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
5
Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada. Electronic address: kmorishita@cw.bc.ca.
6
Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada. Electronic address: sturvey@cw.bc.ca.

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.

PMID:
28043923
DOI:
10.1016/j.clim.2016.12.006
[Indexed for MEDLINE]

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