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
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.G13CKRAS 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
Authors: Oussama Abla; Eric Jacobsen; Jennifer Picarsic; Zdenka Krenova; Ronald Jaffe; Jean-Francois Emile; Benjamin H Durham; Jorge Braier; Frédéric Charlotte; Jean Donadieu; Fleur Cohen-Aubart; Carlos Rodriguez-Galindo; Carl Allen; James A Whitlock; Sheila Weitzman; Kenneth L McClain; Julien Haroche; Eli L Diamond Journal: Blood Date: 2018-05-02 Impact factor: 22.113
Authors: Geraldine Blanchard-Rohner; Robert J Ragotte; Anne K Junker; Mehul Sharma; Kate L Del Bel; Henry Y Lu; Stephanie Erdle; Alanna Chomyn; Harinder Gill; Lori B Tucker; Richard A Schreiber; Jacob Rozmus; Catherine M Biggs; Kyla J Hildebrand; John Wu; Sylvia Stockler-Ipsiroglu; Stuart E Turvey Journal: BMC Pediatr Date: 2021-01-21 Impact factor: 2.125