Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Down Syndrome

  • Luke A. Wall
  • Regina M. ZambranoEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_190-1


Down syndrome results from a trisomy of the 21st chromosome. The syndrome encompasses a recognizable, yet highly variable, pattern of clinical features including abnormal facies, intellectual disability, and involvement of multiple organ systems.

Down syndrome (DS) is the most common chromosome aneuploidy. According to the Centers for Disease Control and Prevention, approximately 1 in every 700 babies in the United States is born with Down syndrome (Parker et al. 2010). This is a recognizable disorder with variable phenotype and clinical features in multiple organ systems. The majority of patients present with intellectual disability and findings in the cardiovascular (CV), gastrointestinal (GI), neurologic, endocrinologic, hematologic, orthopedic, and immunologic systems are typically described.

Patients with DS have increased susceptibility to infections. Otitis media is one of the most frequently encountered health problems. Bacterial sinusitis and lower respiratory tract...

This is a preview of subscription content, log in to check access.


  1. Anwar AJ, Walker JD, Frier BM. Type 1 Diabetes mellitus and Down’s syndrome: prevalence, management and diabetic complications. Diabet Med. 1998;15:160–3.CrossRefGoogle Scholar
  2. Carnicer J, Farré C, Varea V, Vilar P, Moreno J, Artigas J. Prevalence of coeliac disease in Down’s syndrome. Eur J Gastroenterol Hepatol. 2001;13:263–7.CrossRefGoogle Scholar
  3. Giménez-Barcons M, Casteràs A, Armengol Mdel P, Porta E, Correa PA, Marín A, Pujol-Borrell R, Colobran R. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol. 2014;193(8):3872–9.CrossRefGoogle Scholar
  4. Joshi AY, Abraham RS, Snyder MR, Boyce TG. Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency? Vaccine. 2011;29(31):5040–6.CrossRefGoogle Scholar
  5. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A, National Birth Defects Prevention Network. Updated National Birth. Prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008–16.  https://doi.org/10.1002/bdra.20735. Epub 2010 Sep 28CrossRefPubMedGoogle Scholar
  6. Ram G, Chinen J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol. 2011;164(1):9–16.CrossRefGoogle Scholar
  7. Saha SP, Khan M, Chowdhury AK. Immunoglobulin G1 and G2 profile in children with Down syndrome. IMC J Med Sci. 2017;11(1):1–4.CrossRefGoogle Scholar
  8. Sullivan KD, Evans D, Pandey A, Hraha TH, Smith KP, Markham N, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Espinosa JM, Blumenthal T. Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation. Sci Rep. 2017;7(1):14818.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Clinical Genetics, Department of PediatricsLouisiana State University Health Science CenterNew OrleansUSA
  2. 2.Louisiana State University Health Science CenterNew OrleansUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA