Mechanisms underlying autoimmunity in Down syndrome revealed (Therapies to reduce inflammation)

Medical Xpress / The Mount Sinai Hospital / Nature / Immunity ^ | Feb. 22, 2023 | Dusan Bogunovic et al / Louise Malle et al

[ConservativeMind]

Scientists have identified which parts of the immune system go awry and contribute to autoimmune diseases in individuals with Down syndrome.

The work adds to the research team's findings, showing that people with Down syndrome have less frequent but more severe viral infections.

Studying lab specimens from volunteers with Down syndrome, the investigators identified cytokines and a B cell subtype—key players in the adaptive immune response—as the potential culprits for most autoimmunity in people with the disorder.

Strikingly, the researchers found that many people with Down syndrome are in a perpetual state of inflammation comparable to those without Down syndrome who are in intensive care with an acute infection. According to the researchers, this leads to the breaking of immune tolerance, which results in autoimmunity.

"Our findings could be used to test existing therapies not commonly used in persons with Down syndrome and to develop potential therapeutics to alleviate autoimmunity symptoms in individuals with the disorder," said Dusan Bogunovic, Ph.D. "Available drugs such as tocilizumab and a variety of JAK inhibitors could potentially tame this inflammation. And in patients who have elevated autoimmune prone B cells, there is an opportunity to develop therapies targeting this cell type specifically."

Down syndrome, the most common genetic condition diagnosed at birth, is typically caused by triplication of chromosome 21.

"People with Down syndrome are an underserved population worldwide. They require the same level of dedication as all of us. We now have a better understanding of their health and are laying the groundwork to potentially use existing drugs and develop new ones, which could be transformative to their health," said Louise Malle, an MD/Ph.D. candidate. "We also need to keep in mind that, just like in the general population, not all individuals with the disorder are the same, and there is significant variability."

[ConservativeMind]

Cutting off inflammation could go a long way toward helping with some Down Syndrome complications.

[ConservativeMind]

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I’m thinking it could also help the rest of us with autoimmune problems too, down the road. I really hope this can help DS people. They are vulnerable in this world, and this world is getting crazier by the day.