Infections and immunodeficiency in Down syndrome

• Published in: Clinical and experimental immunology Vol. 164; no. 1; pp. 9 - 16
• Main Authors: Ram, G, Chinen, J
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-04-2011; Blackwell; Oxford University Press; Blackwell Science Inc
• Subjects: Analytical, structural and metabolic biochemistry; Antibodies; antibody response; Bacterial diseases; Biological and medical sciences; Cell proliferation; Chemotaxis; Child; chromosome 21; Chromosome aberrations; Cognitive ability; Defects; Down syndrome; Down Syndrome - complications; Down Syndrome - immunology; Down's syndrome; Ear canal; Ent and stomatologic bacterial diseases; Fundamental and applied biological sciences. Psychology; Human bacterial diseases; Humans; Hypersensitivity - etiology; Hypersensitivity - immunology; Immune system; Immunization; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunodeficiency; Immunologic Deficiency Syndromes - etiology; Immunologic Deficiency Syndromes - immunology; Immunopathology; Infection; Infections; Infectious diseases; Leukocytes (neutrophilic); Lymphocytes B; Lymphocytes T; Lymphopenia; Lymphopenia - etiology; Lymphopenia - immunology; Medical genetics; Medical sciences; Models, Immunological; Molecular modelling; Nutrient deficiency; otitis media; Overexpression; Respiratory tract; Respiratory tract diseases; Respiratory Tract Infections - etiology; Respiratory Tract Infections - immunology; Review; Superoxide dismutase; Trisomy; Zinc; Chromosomal aberration; Immunopathology; Trisomy; Immune response; Antibody; Middle ear disease; Chromosome G21; Aneuploidy; Biochemistry; Down syndrome; Chemotaxis; Immune deficiency; Infection; antibody response; ENT disease; Otitis media; immunodeficiency; Humoral immunity
• ISSN: 0009-9104; 1365-2249
• DOI: 10.1111/j.1365-2249.2011.04335.x

Down syndrome (DS) is the most common genetic disease and presents with cognitive impairment, cardiac and gastrointestinal abnormalities, in addition to other miscellaneous clinical conditions. DS individuals may have a high frequency of infections, usually of the upper respiratory tract, characterized by increased severity and prolonged course of disease, which are partially attributed to defects of the immune system. The abnormalities of the immune system associated with DS include: mild to moderate T and B cell lymphopenia, with marked decrease of naive lymphocytes, impaired mitogen-induced T cell proliferation, reduced specific antibody responses to immunizations and defects of neutrophil chemotaxis. Limited evidence of genetic abnormalities secondary to trisomy of chromosome 21 and affecting the immune system is available, such as the potential consequences of gene over-expression, most significantly SOD1 and RCAN1. Secondary immunodeficiency due to metabolic or nutritional factors in DS, particularly zinc deficiency, has been postulated. Non-immunological factors, including abnormal anatomical structures (e.g. small ear canal, tracheomalacia) and gastro-oesophageal reflux, may play a role in the increased frequency of respiratory tract infections. The molecular mechanisms leading to the immune defects observed in DS individuals and the contribution of these immunological abnormalities to the increased risk of infections require further investigation. Addressing immunological and non-immunological factors involved in the pathogenesis of infectious diseases may reduce the susceptibility to infections in DS subjects.