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Assessment of autoantibodies in paediatric population with primary immunodeficiencies: a pilot study
Karolina Pieniawska-Śmiech1,2, Aleksandra Lewandowicz-Uszyńska3,4, Magdalena Zemelka-Wiacek5
1Department of Clinical Immunology, Wroclaw Medical University, 50-368, Wroclaw, Poland. karolina.pieniawska-smiech@student.umw.edu.pl.
Insights
Autoantibodies are common in children with primary immunodeficiencies (PIDs), with anti-thyroid peroxidase being most frequent. Screening for specific autoantibodies like anti-tissue transglutaminase (anti-tTG) and anti-deamidated gliadin peptide (anti-DGP) can aid in early PID diagnosis.
Area of Science:
- Immunology
- Pediatrics
- Autoimmunity
Background:
- Primary immunodeficiencies (PIDs) exhibit diverse ethnic and geographical correlations with autoimmunity.
- Limited data exists on autoimmune manifestations in pediatric PID populations.
Purpose of the Study:
- To investigate the prevalence of autoantibodies in children diagnosed with primary immunodeficiencies.
- To explore the potential of specific autoantibodies as screening markers for early PID diagnosis.
Main Methods:
- Serum autoantibody levels against 17 autoantigens were quantified in 58 pediatric PID patients and 14 controls using quantitative enzyme immunoassay.
- Immunoglobulin levels were correlated with detailed medical examinations.
Main Results:
- Autoantibodies were detected in 24.14% of pediatric PID patients, with anti-thyroid peroxidase (anti-TPO) antibodies being the most prevalent (13.8%).
- Elevated anti-TPO levels were more common in PID patients with a family history of autoimmune diseases (p=0.04).
- Screening identified two undiagnosed celiac disease cases in PID patients using anti-deamidated gliadin peptide (anti-DGP) and anti-tissue transglutaminase (anti-tTG) antibodies.
Conclusions:
- This study provides crucial data on autoantibody prevalence in pediatric PID patients.
- Specific autoantibodies, including anti-tTG and anti-DGP, may serve as valuable screening tools to expedite PID diagnosis and prevent autoimmune disease delays.
Background:
The correlation between primary immunodeficiencies (PIDs) and autoimmunity shows ethnic and geographical diversity. The aim of our study was to accumulate more data in paediatric PID population.
Methods:
58 children aged 1-17 and with PID (study group) and 14 age-matched immunocompetent individuals (control group) were included in the study. Serum levels of 17 different specific IgG antibodies against autoantigens were measured by means of a quantitative enzyme immunoassay. Immunoglobulin levels were analysed in relation to a detailed medical examination.
Results:
Autoantibodies against one or more antigens were detected in the sera of 24.14% (n = 14) subjects in the study group. The most frequent were anti-thyroid peroxidase (anti-TPO) antibodies (n = 8; 13.8%). Anti-TPO antibody levels were elevated more often in PID patients with a positive family history of autoimmune diseases (p = 0.04). The screening for anti-deamidated gliadin peptide (DGP) and anti-tissue transglutaminase (tTG) antibodies in our series allowed identifying two previously undiagnosed cases of coeliac disease in PID patients. There was no statistically significant difference between the study and the control group in terms of the autoantibodies prevalence.
Conclusions:
This study provides data on the prevalence of autoantibodies in paediatric population diagnosed with PID. Selected autoantibodies (i.e. anti-tTG, anti-DGP) might be useful for the screening of PID to avoid the delay of diagnosis of an autoimmune disease.
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