Case Report: p40

Systemic lupus erythematosus is a multi-faceted autoimmune disorder of complex etiology. Pre-pubertal onset of pediatric systemic lupus erythematosus (pSLE) is uncommon and should raise suspicion for a genetic driver of disease. Autosomal recessive p40 We report the case of a now 18-year-old female with pSLE onset at 7 years of age. She presented with recurrent fever and malar rash. Aspects of her immune dysregulation over time have included typical pSLE features including production of autoantibodies, hematologic manifestations, and hypocomplementemia, as well as chronic suppurative skin lesions and recurrent infections. Genetic analysis revealed biallelic pathogenic variants in Here, we present a patient with pSLE harboring biallelic variants in

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© 2024 Nieto-Patlán, Fernández Dávila, Wang, Zelnick, Muscal, Curry, Lupski, Holland, Yuan, Kuhns, Vogel and Chinn.

Déclaration de conflit d'intérêts

DK was employed by Leidos Biomedical Research Inc. TV receives research support from AstraZeneca. JRL has stock ownership in 23andMe and is a paid consultant for Genome International, Inc. The remaining authors declare no commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.