Autoimmunity in Down’s syndrome via cytokines

In a new study, researchers from the Icahn Medical College in Mount Sinai, the United States, determined which parts of the immune system of patients with Down’s syndrome had problems, which led to autoimmune diseases. Relevant research results were published online in the journal Nature.

This new study complements the findings of these authors published in the journal of Immunity in October 2022, that is, the frequency of viral infection in patients with Down’s syndrome is lower, but more serious (Immunity, 2022, doi: 10.1016/j.immi.2022.09.007).

By studying the laboratory samples of volunteers with Down’s syndrome, these authors found that cytokines and a B-cell subtype that plays a key role in the adaptive immune response are the potential culprits of most autoimmune diseases in patients with Down’s syndrome. Surprisingly, many of these people with Down syndrome are in a permanent inflammatory state, which is comparable to those who do not have Down syndrome and are in intensive care due to acute infection. According to them, this will lead to the destruction of immune tolerance, leading to autoimmune.

Professor Dusan Bogunovic, the corresponding author of the paper and the Center for Congenital Immune Errors of Ican Medical College in Sinai, said that “Our findings may be used to test existing therapies that are not commonly used in patients with Down’s syndrome, and to develop potential therapies to alleviate the patients’ autoimmune symptoms. Available drugs, such as tocilizumab and various JAK inhibitors, may inhibit this inflammation. For patients with an autoimmune predisposition to elevated B cells, there is an opportunity to develop therapies specifically targeting this cell type.” They found a persistent elevation of up to 22 cytokines at a steady state and detected basal cellular activation

Down syndrome is the most common genetic disease diagnosed at birth, usually caused by three chromosomes 21. Among other problems, patients with Down syndrome also suffer from autoimmune diseases, including hair loss, skin, intestinal, and thyroid problems. Although there are considerable differences around the world, this phenomenon is prevalent in about 1/700 live births in terms of race, gender, and socio-economic aspects.

Said Louise Malle, the first author of the paper and a doctor of medicine student at Icahn Medical College in Sinai, “Down’s syndrome patients are underserved people all over the world. They need the same dedication as all of us. We now have a better understanding of their health and are laying the foundation for the potential use of existing drugs and the development of new drugs, which may have a profound impact on their health. We also need to remember that, just as in the general population, not all individuals with this disease are the same, and there are significant differences. ”

Next, these authors plan to further study the causes of autoimmune in Down’s syndrome patients and help promote a formal randomized placebo-controlled clinical trial in which the available drugs may be best tested in the clinical environment. In addition, they intend to broaden their understanding of this disease in this field.

Related Products

Chemokines

CCL1 CCL11 CCL12 CCL13 CCL14 CCL15 CCL16 CCL17 CCL18 CCL19 CCL2 CCL20 CCL21 CCL22 CCL23 CCL24 CCL25 CCL26 CCL27 CCL28