AUTOIMMUNE HEPATITIS AND IMMUNE DYSREGULATION: A CASE SERIES
(2025) 57th Annual Meeting of the European Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) — Location: Helsinki, Filand (14.May.2025)
Files
991_AUTOIMMUNEHEPATITISANDIMMUNEDYSREGULATION_ACASESERIES.pdf
Open Access - Adobe PDF
- 87.06 KB
Details
- Authors
- Abstract
- Objectives and Study To assess the presence of inborn errors of immunity (IEI) in a pediatric autoimmune hepatitis (AIH) cohort. Methods This retrospective study included all patients aged 0-18 diagnosed with AIH in our center between 1995 and2023 and concurrently followed by the immunology department for a clinical and/or molecular IEI diagnosis. Results Amongst the 83 patients followed in our center for AIH, six patients (7.2%) displayed signs of associated IEI.Two of those six patients had a genetic confirmation of IEI (SP110 and AIRE homozygous mutations), threepatients displayed variants of uncertain significance in immunodeficiency-related genes, and the last patientwas not genetically tested. IEI-related signs were recurrent infections (n=4), immune-mediated cytopenia (n=4),immune-mediated skin disease (n=3), chronic diarrhea (n=1) and autoimmune polyendocrinopathy (n=1). Fourpatients were diagnosed with seronegative AIH and two patients with AIH type 2. All patients responded to AIHimmunosuppressive therapy, except for the two AIH type 2 patients who underwent emergent livertransplantation for fulminant liver failure at diagnosis. Conclusions Our small case series highlights the need to look for signs of immune dysregulation in AIH patients. Conversely,as AIH can be atypical in IEI, the threshold should be low to perform a diagnostic liver biopsy in IEI patientssuffering from chronic cytolysis. We believe that systematic genetic testing and immune phenotyping of AIHpatients who display signs of dysimmunity will be crucial to better understand the close link between AIH and IEI
- Affiliations
Citations
Jannone, G., Triaille, C., Touzot, F., & Alvarez, F. (2025). AUTOIMMUNE HEPATITIS AND IMMUNE DYSREGULATION: A CASE SERIES. 57th Annual Meeting of the European Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), Helsinki, Filand. https://hdl.handle.net/2078.5/242112