Related Experiment Video

Updated: Jul 17, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

Celiac disease in Down's syndrome with HLA serological and molecular studies

P Failla1, C Ruberto, M C Pagano

  • 1Department of Pediatrics, Oasi Institute (IRCCS), Tronia, Italy.

Journal of Pediatric Gastroenterology and Nutrition
|October 1, 1996
PubMed

Insights

Down

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Down's syndrome (DS) is associated with an increased risk of celiac disease (CD).
  • Understanding the interplay between DS and CD is crucial for early diagnosis and management.
  • Previous studies confirm a link, but further investigation into serological markers and HLA associations is warranted.

Purpose of the Study:

  • To investigate the sensitivity and specificity of antigliadin antibodies (AGAs) in individuals with DS.
  • To determine the incidence of CD in a Sicilian cohort with DS.
  • To analyze HLA class I and II associations in subjects with DS and CD.

Main Methods:

  • Assessed IgA and IgG antigliadin antibodies (AGAs) in 57 Sicilian subjects with DS.
  • Performed jejunal biopsies on 10 individuals with DS to diagnose CD.
  • Conducted serological and molecular HLA typing on DS patients with and without CD, CD patients without DS, and controls.

Main Results:

  • High levels of IgA AGAs were found in 10.5% and IgG AGAs in 29.8% of subjects with DS.
  • AGA sensitivity and specificity were lower in the DS population compared to the general population.
  • Celiac disease was diagnosed in 12.2% of individuals with DS via jejunal biopsy, with symptom resolution upon gluten-free diet.
  • No significant difference in HLA class I antigens was observed between DS patients with and without CD.
  • The DQA1*0101 allele was found to be significantly associated with DS patients who also have CD.

Conclusions:

  • Antigliadin antibodies have reduced diagnostic utility in individuals with Down's syndrome.
  • Celiac disease is prevalent in individuals with Down's syndrome, necessitating screening.
  • The DQA1*0101 HLA allele may play a role in the association between Down's syndrome and celiac disease, warranting further research.

More Related Videos

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases06:50

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

Published on: May 29, 2020

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-1906:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...