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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

Systemic lupus erythematosus in children is uncommon, but not rare. It should be considered in any child (particularly an older child) who has been unwell for more than 1 week with multisystem clinical features without a diagnosis. The most common presentation is a febrile child with fatigue, an erythematosus malar rash and arthritis. Leukopenia, thrombocytopenia and a raised ESR is suggestive, as is a urinalysis indicative of nephritis. The presence of anti-DNA antibodies confirms the diagnosis, but its absence does not exclude this possibility. Although a life-long and serious disease with a high morbidity and substantial mortality, the prognosis has dramatically improved recently, largely because of the aggressive use of high-dose corticosteroids at onset and with disease flares, combined with other potent anti-inflammatory agents. The early empirical use of antibiotics for possible sepsis is essential. Early referral and frequent follow-up by a team specialized in the management of the condition has probably been critical in improving outcome.