Inborn Errors of Adaptive Immunity in Down Syndrome
| Autor: | Ruud H J Verstegen, Maaike A. A. Kusters |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Down syndrome Cell Survival Primary Immunodeficiency Diseases Immunology CD4-CD8 Ratio Receptors Antigen T-Cell Autoimmunity Thymus Gland Adaptive Immunity Biology Lymphocyte Activation Models Biological 03 medical and health sciences 0302 clinical medicine Germline mutation Immune system T-Lymphocyte Subsets Immunity medicine Animals Humans Immunology and Allergy Immunodeficiency medicine.disease Acquired immune system Immunity Innate 030104 developmental biology Immune System Cytokines Disease Susceptibility Interferons Down Syndrome Inflammation Mediators Trisomy Chromosome 21 Biomarkers 030215 immunology |
| Zdroj: | Journal of Clinical Immunology. 40:791-806 |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-020-00805-7 |
| Popis: | Down syndrome fits an immunophenotype of combined immunodeficiency with immunodysregulation, manifesting with increased susceptibility to infections, autoimmunity, autoinflammatory diseases, and hematologic malignancies. Qualitative and quantitative alterations in innate and adaptive immunity are found in most individuals with Down syndrome. However, there is substantial heterogeneity and no correlation between immunophenotype and clinical presentation. Previously, it was thought that the immunological changes in Down syndrome were caused by precocious aging. We emphasize in this review that the immune system in Down syndrome is intrinsically different from the very beginning. The overexpression of specific genes located on chromosome 21 contributes to immunodeficiency and immunodysregulation, but gene expression differs between genes located on chromosome 21 and depends on tissue and cell type. In addition, trisomy 21 results in gene dysregulation of the whole genome, reflecting the complex nature of this syndrome in comparison to well-known inborn errors of immunity that result from monogenic germline mutations. In this review, we provide an updated overview focusing on inborn errors of adaptive immunity in Down syndrome. |
| Databáze: | OpenAIRE |
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