Girl’s case of lupus leads to new understanding of a perplexing disease
As a young girl, Gabriela Piqueras wasn’t quite like the other children in her class. She couldn’t play with her friends, because any minor bump would cause a large bruise to bloom instantly. She couldn’t get much sun, and as a pre-teen, she spent long stretches of time in the hospital. At age 7, while living in Madrid, Piqueras was diagnosed with lupus, a confounding and severe autoimmune disease that can be detrimental to many organs, including the kidneys, spleen, heart, and brain.
Her rare case of pediatric lupus caught the attention of Carola Vinuesa, an autoimmunity researcher at the Francis Crick Institute in London who happened to be a friend of Piqueras’s doctor. Almost a decade later, the young girl’s lupus is helping unravel some of the secrets of this perplexing illness. That’s because in studying Piqueras, doctors were able to figure out the cause of her lupus: a single variant in the gene that encodes for the protein called Toll-like receptor 7, or TLR7. That defect set off an exaggerated and misguided immune response to the body’s own RNA.
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