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
Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Bruins Pediatric Centre, Chilliwack General Hospital, Chilliwack, BC, Canada.
Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31.
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.
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).
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.
临床医生需要了解自身免疫性疾病明确的单基因病因清单不断增加的情况。在评估儿童时这一点尤为重要，因为这些罕见的单基因自身免疫形式往往在生命早期就会出现。
通过利用下一代测序的变革力量，我们对一名患有看似不相关的罗萨伊-多夫曼病和系统性红斑狼疮（SLE）免疫调节异常疾病的男孩做出了统一诊断，其病因是体细胞功能获得性p.G13C KRAS突变导致的RAS相关自身免疫性白细胞增殖性疾病（RALD）。
该病例拓展了我们对与极其罕见的RALD疾病相关临床表型的认识，并强调了始终考虑自身免疫性单基因病因可能性的重要性，尤其是当疾病表现始于生命早期且不遵循典型临床病程时。
