de Graaf G, Buckley F, Skotko BG (2016) Live births, natural losses, and elective terminations with Down syndrome in Massachusetts. Genet Med 18:459–466

Article  PubMed  Google Scholar 

Kazemi M, Salehi M, Kheirollahi M (2016) Down syndrome: current status, challenges and future perspectives. Int J Mol Cell Med 5:125–133

PubMed  PubMed Central  Google Scholar 

Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S (2015) Down syndrome: an insight of the disease. J Biomed Sci 22:41

Article  PubMed  PubMed Central  Google Scholar 

Whooten R, Schmitt J, Schwartz A (2018) Endocrine manifestations of Down syndrome. Curr Opin Endocrinol Diabetes Obes 25:61–66

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferrari M, Stagi S (2021) Autoimmunity and genetic syndromes: a focus on down syndrome. Genes (Basel) 12(2):268

Article  CAS  PubMed  Google Scholar 

Kyritsi EM, Kanaka-Gantenbein C (2020) Autoimmune thyroid disease in specific genetic syndromes in childhood and adolescence. Front Endocrinol (Lausanne) 11:543

Article  PubMed  Google Scholar 

de Weerd NA, Nguyen T (2012) The interferons and their receptors–distribution and regulation. Immunol Cell Biol 90:483–491

Article  PubMed  PubMed Central  Google Scholar 

Alexandrov PN, Percy ME, Lukiw WJ (2018) Chromosome 21-encoded microRNAs (mRNAs): impact on Down’s syndrome and trisomy-21 linked disease. Cell Mol Neurobiol 38:769–774

Article  CAS  PubMed  Google Scholar 

Nicholson LB, Wong FS, Ewins DL et al (1994) Susceptibility to autoimmune thyroiditis in Down’s syndrome is associated with the major histocompatibility class II DQA 0301 allele. Clin Endocrinol (Oxf) 41:381–383

Article  CAS  PubMed  Google Scholar 

Gillespie KM, Dix RJ, Williams AJ et al (2006) Islet autoimmunity in children with Down’s syndrome. Diabetes 55:3185–3188

Article  CAS  PubMed  Google Scholar 

Johnson MB, De Franco E, Greeley SAW et al (2019) Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated. Diabetes 68:1528–1535

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aitken RJ, Mehers KL, Williams AJ et al (2013) Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in Down syndrome. Diabetes Care 36:1181–1185

Article  CAS  PubMed  PubMed Central  Google Scholar 

Book L, Hart A, Black J, Feolo M, Zone JJ, Neuhausen SL (2001) Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study. Am J Med Genet 98:70–74

Article  CAS  PubMed  Google Scholar 

Failla P, Ruberto C, Pagano MC et al (1996) Celiac disease in Down’s syndrome with HLA serological and molecular studies. J Pediatr Gastroenterol Nutr 23:303–306

CAS  PubMed  Google Scholar 

Mortimer GL, Gillespie KM (2020) Early onset of autoimmune diabetes in children with Down syndrome-two separate aetiologies or an immune system pre-programmed for autoimmunity? Curr Diab Rep 20:47

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dieudonné Y, Uring-Lambert B, Jeljeli MM et al (2020) Immune defect in adults with Down syndrome: insights into a complex issue. Front Immunol 11:840

Article  PubMed  PubMed Central  Google Scholar 

Espinosa JM (2020) Down syndrome and COVID-19: a perfect storm? Cell Rep Med 1:100019

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stagi S, Lapi E, Romano S et al (2015) Determinants of vitamin d levels in children and adolescents with down syndrome. Int J Endocrinol 2015:896758

Article  PubMed  PubMed Central  Google Scholar 

Boyd NK, Nguyen J, Khoshnood MM et al (2023) Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder. J Neurodev Disord 15:35

Article  PubMed  PubMed Central  Google Scholar 

Bertapelli F, Pitetti K, Agiovlasitis S, Guerra-Junior G (2016) Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: a literature review. Res Dev Disabil 57:181–192

Article  PubMed  Google Scholar 

AlAaraj N, Soliman AT, Itani M, Khalil A, De Sanctis V (2019) Prevalence of thyroid dysfunctions in infants and children with Down syndrome (DS) and the effect of thyroxine treatment on linear growth and weight gain in treated subjects versus DS subjects with normal thyroid function: a controlled study. Acta Biomed 90:36–42

CAS  PubMed  PubMed Central  Google Scholar 

Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Annerén G (1998) Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 79:242–245

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ragusa F, Fallahi P, Elia G et al (2019) Hashimotos’ thyroiditis: epidemiology, pathogenesis, clinic and therapy. Best Pract Res Clin Endocrinol Metab 33:101367

Article  PubMed  Google Scholar 

Husby S, Koletzko S, Korponay-Szabó IR et al (2012) European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 54:136–160

Article  CAS  PubMed  Google Scholar 

Ali FE, Al-Busairi WA, Al-Mulla FA (1999) Treatment of hyperthyroidism in Down syndrome: case report and review of the literature. Res Dev Disabil 20:297–303

Article  CAS  PubMed  Google Scholar 

Neu A, Bürger-Büsing J, Danne T et al (2019) Diagnosis, therapy and follow-up of diabetes mellitus in children and adolescents. Exp Clin Endocrinol Diabetes 127:S39-s72

Article  CAS  PubMed  Google Scholar 

Pessoa DMF, Oliveira NLRSDP, Dantas GDS, Fernandes VDFT, Noronha RMD, Calliari LE (2021) Characteristics of type 1 diabetes mellitus in children and adolescents with Down’s syndrome in an admixed population. Arch Endocrinol Metab 65(1):562–569

PubMed  PubMed Central  Google Scholar 

Padmakumar B, Evans Jones LG, Sills JA (2002) Is arthritis more common in children with Down syndrome? Rheumatology (Oxford) 41:1191–1193

Article  CAS  PubMed  Google Scholar 

Jones JT, Talib N, Lovell D, Becker ML (2019) Clinical features and treatment of down syndrome arthropathy: experience from two US tertiary hospitals. Paediatr Drugs 21:33–39

Article  PubMed  Google Scholar 

Kudsi M, Haj Ali D, Khalayli N, Jaber S, Almasri RNM (2024) Systemic lupus erythematosus and Down syndrome: a case report and literature review. Ann Med Surg (Lond) 86:1112–1115

Article  PubMed  Google Scholar 

Lima Estefan J, Queiroz M, Costa FF et al (2013) Clinical characteristics of alopecia areata in Down syndrome. Acta Dermatovenerol Croat 21:253–258

PubMed  Google Scholar 

Santoro JD, Lee S, Wang AC et al (2021) Increased autoimmunity in individuals with down syndrome and moyamoya disease. Front Neurol 12:724969

Article  PubMed  PubMed Central