High frequency of celiac disease in Down syndrome

George, Elvira K.; Bouquet, J; Blomberg, B. Mary E. von; Stapel, S. O.; Elburg, Ruurd M. van; Graafa, Erik A.B. de

doi:10.1016/s0022-3476(96)70369-4

Cited by 89 publications

(59 citation statements)

References 9 publications

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“…However, compared with the general population (0.62%) (Bower et al 1996) the relative risk (RR) of gastrointestinal defects in children with DS was 4.59 (95% CI 2.08 to 10.11). Although coeliac disease occurred more frequently (0.95%) (RR 32.54 [95% CI 8.06 to 131.44]) than in the general population (0.03%) (Porter and Duggan 1990), its prevalence was less (RR 0.24 [95%CI 0.04-1.68]) than the minimum prevalence (3.9%) estimated in Australian adults with DS (Gale et al 1997) and less than reported in European studies of people with DS (Simila and Kokkonen 1990, Zubillaga et al 1993, Jansson and Johansson 1995, George et al 1996 where the highest prevalence was 16.9%. Hence it is possible that the true prevalence of coeliac disease in children with DS in Western Australia will only be identified by screening for IgG and IgA antibodies (Gale et al 1997).…”

Section: Discussionmentioning

confidence: 95%

Medical aspects of school‐aged children with Down syndrome

Leonard

Bower

Petterson³

et al. 1999

Develop Med Child Neuro

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Current and comprehensive information about the medical issues affecting children with Down syndrome (DS) is of value in counselling parents who are considering prenatal diagnosis and in planning services for people with DS as they age, especially given the continued improvements in their survival. Parents of school-aged children (mean age 11.37 years, 57.3% male, 42.7% female) with DS were identified by linking registers from the Disability Services Commission and the Birth Defects Registry. Less than half the children had cardiac and bowel conditions. More than half had ear conditions and more than three quarters had eye conditions. Ear, nose, and throat professionals were the specialists seen most often and the rate of tympanostomy tube insertion was nearly 17 times that of the general childhood population. Children with DS were over five times more likely to wear glasses than other children. These findings suggest that chronic, non life-threatening conditions impose a burden on families but do not threaten quality of life.

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Section: Discussionmentioning

confidence: 95%

Medical aspects of school‐aged children with Down syndrome

Leonard

Bower

Petterson³

et al. 1999

Develop Med Child Neuro

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“…own syndrome (DS), or trisomy 21, is associated with an increased frequency of autoimmune disorders such as autoimmune hypothyroidism (1), hyperthyroidism (2), insulin-dependent diabetes mellitus (IDDM) (3), alopecia, and celiac disease (4). The mechanism underlying the high frequency of autoimmune manifestations in DS is not known.…”

mentioning

confidence: 99%

Altered Expression of Autoimmune Regulator in Infant Down Syndrome Thymus, a Possible Contributor to an Autoimmune Phenotype

Skogberg

Lundberg

Lindgrén

et al. 2014

The Journal of Immunology

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Down syndrome (DS), caused by trisomy of chromosome 21, is associated with immunological dysfunctions such as increased frequency of infections and autoimmune diseases. Patients with DS share clinical features, such as autoimmune manifestations and specific autoantibodies, with patients affected by autoimmune polyendocrine syndrome type 1. Autoimmune polyendocrine syndrome type 1 is caused by mutations in the autoimmune regulator (AIRE) gene, located on chromosome 21, which regulates the expression of tissue-restricted Ags (TRAs) in thymic epithelial cells. We investigated the expression of AIRE and TRAs in DS and control thymic tissue using quantitative PCR. AIRE mRNA levels were elevated in thymic tissue from DS patients, and trends toward increased expression of the AIRE-controlled genes INSULIN and CHRNA1 were found. Immunohistochemical stainings showed altered cell composition and architecture of the thymic medulla in DS individuals with increased frequencies of AIRE-positive medullary epithelial cells and CD11c-positive dendritic cells as well as enlarged Hassall’s corpuscles. In addition, we evaluated the proteomic profile of thymic exosomes in DS individuals and controls. DS exosomes carried a broader protein pool and also a larger pool of unique TRAs compared with control exosomes. In conclusion, the increased AIRE gene dose in DS could contribute to an autoimmune phenotype through multiple AIRE-mediated effects on homeostasis and function of thymic epithelial cells that affect thymic selection processes.

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“…An autoimmune basis seems likely, since the risk of other organspecific autoimmune diseases is also greatly increased in Down's syndrome. The prevalence of autoimmune thyroid disease is at least fourfold higher in children with Down's syndrome than in the general population (10,11), and celiac disease may be 10 -40 times more common (12)(13)(14). Down's syndrome therefore appears to confer susceptibility to multiple forms of autoimmunity, although no mechanism has been proposed to explain this phenomenon.…”

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confidence: 99%

Islet Autoimmunity in Children With Down’s Syndrome

et al. 2006

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There is an unexplained excess of type 1 diabetes and other organ-specific autoimmune diseases in children with Down's syndrome, but the immunogenetic characteristics of diabetes in Down's syndrome have not been investigated. We studied the frequency of islet autoantibodies in 106 children with Down's syndrome and no history of autoimmunity and analyzed HLA class II genotypes in 222 children with Down's syndrome, 40 children with Down's syndrome and type 1 diabetes, 120 age-and sex-matched children with type 1 diabetes, and 621 healthy control subjects. Co-occurrence of at least two islet autoantibody markers was observed in 6 of 106 nondiabetic children with Down's syndrome compared with 13 of 2,860 healthy agematched children (P < 0.001). There was an excess of diabetes-associated HLA class II genotypes in children with Down's syndrome and type 1 diabetes compared with ageand sex-matched healthy control subjects (P < 0.001). Down's syndrome children with type 1 diabetes were, however, less likely to carry the highest risk genotype DR4-DQ8/DR3-DQ2 than children with type 1 diabetes from the general population (P ‫؍‬ 0.01) but more likely to carry low-risk genotypes (P < 0.0001). The frequency of subclinical islet autoimmunity is increased in Down's syndrome, and susceptibility to type 1 diabetes in Down's syndrome is partially HLA mediated. Other factors, possibly including genes on chromosome 21, may increase the penetrance of type 1 diabetes in Down's syndrome. Diabetes 55: [3185][3186][3187][3188] 2006

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High frequency of celiac disease in Down syndrome

Cited by 89 publications

References 9 publications

Medical aspects of school‐aged children with Down syndrome

Medical aspects of school‐aged children with Down syndrome

Altered Expression of Autoimmune Regulator in Infant Down Syndrome Thymus, a Possible Contributor to an Autoimmune Phenotype

Islet Autoimmunity in Children With Down’s Syndrome

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