Affiliation:
1. Center for Inborn Errors of Immunity Icahn School of Medicine at Mount Sinai New York New York USA
2. Department of Pediatrics Icahn School of Medicine at Mount Sinai New York New York USA
3. Mindich Child Health and Development Institute Icahn School of Medicine at Mount Sinai New York New York USA
4. Precision Immunology Institute Icahn School of Medicine at Mount Sinai New York New York USA
5. Department of Microbiology Icahn School of Medicine at Mount Sinai New York New York USA
Abstract
SummaryOver 200,000 individuals in the United States alone live with Down Syndrome (DS), the most common genetic disorder associated with intellectual disability. DS has a constellation of features across the body, including dysregulation of the immune system. Individuals with DS have both a higher frequency of autoimmunity and more severe infections than the general population, highlighting the importance of understanding the immune system in this population. Individuals with DS present with dysregulation of both the innate and adaptive immune systems. Elevated cytokine levels, increased type I and type II IFN signaling, a shift toward memory phenotypes in T cells, and a decrease in the size of the B‐cell compartment are observed in individuals with DS, which contribute to both autoinflammation and severe infections. Herein, we discuss the current knowledge of the immune system in individuals with Down Syndrome as well as ideas of necessary further investigations to decipher the mechanisms by which trisomy 21 leads to immune dysregulation, with the ultimate goal of identifying clinical targets to improve treatment.
Funder
National Institutes of Health
Subject
Immunology,Immunology and Allergy