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Low Serum Alpha-Antitrypsin Associated with Anti-PR-3 ANCA in Autistic Children with GI Disease
A J Russo1, A Krigsman2, B Jepson2
1Research Director Health Research Institute/Pfeiffer Treatment Center, 4575 Weaver Parkway Warrenville, Illinois 60555.
Insights
Low alpha-1 antitrypsin (AAT) levels and anti-neutrophil cytoplasmic antibodies (ANCA) are linked to severe gastrointestinal (GI) disease in some autistic children. This suggests AAT deficiency may contribute to inflammation and ANCA presence in these individuals.
Area of Science:
- Immunology
- Gastroenterology
- Neurodevelopmental Disorders
Background:
- Autism Spectrum Disorder (ASD) is increasingly associated with gastrointestinal (GI) issues.
- Inflammatory markers and specific autoantibodies may play a role in GI disease severity in ASD.
Purpose of the Study:
- To investigate the relationship between serum alpha-1 antitrypsin (AAT) levels and anti-neutrophil cytoplasmic antibodies (ANCA) in autistic children with severe GI disease.
- To test the hypothesis that low AAT, ANCA presence, and GI inflammation are interconnected in ASD.
Main Methods:
- Serum samples from 40 autistic children with chronic digestive disease and 41 controls were analyzed.
- ELISAs were used to quantify ANCA (anti-PR3), AAT, and PR3 levels.
Main Results:
- Autistic children with severe GI disease showed higher rates of anti-PR3 ANCA and elevated serum PR3 compared to controls.
- This group also exhibited lower serum AAT levels, correlating with anti-PR3 ANCA, high PR3, and disease severity (LNH, erythema).
Conclusions:
- A correlation exists between low AAT levels, ANCA, and GI disease severity in a subset of individuals with ASD.
- Low AAT may lead to increased PR3 levels, potentially contributing to ANCA presence and GI inflammation.
Aim:
To assess the possible relationship between serum alpha-1 antitrypsin (AAT) levels and anti-neutrophil cytoplasmic antibodies (ANCA) in autistic children with severe GI disease and to test the hypothesis that there is an association between low serum AAT levels, the presence of ANCA and inflammatory GI disease seen in some autistic children.
Subjects And Methods:
Serum from 40 autistic children with chronic digestive disease (many with ileo-colonic lymphoid nodular hyperplasia (LNH) and inflammation of the colorectum, small bowel and/or stomach), and 41 controls (21 age matched autistic children with no GI disease and 20 age matched children without autism or GI disease) were tested using ELISAs designed to quantitate ANCA (anti-PR3), AAT and PR3 levels.
Results:
We found that a significant number of autistic children with chronic digestive disease had anti-PR3 ANCA, high serum PR3 and high severity of disease when compared to controls. This same group of autistic children had low serum levels of AAT compared to controls, which also correlated with the presence of anti-PR3 ANCA, high serum PR3, as well as the severity of intestinal disease, particularly LNH and severe erythema.
Discussion:
These results suggest a relationship between low AAT levels, ANCA and severity of GI disease seen in a subpopulation of ASD individuals. We suggest that low AAT levels may result in high levels of PR3, which may, in turn be associated with the presence of ANCA.

