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. 2024 Jul;35(7):560-567.
doi: 10.5152/tjg.2024.23171.

Inborn Errors of Immunity in Adults with Autoimmune Liver Diseases

Şefika Nur Ayar  1 , Elif Soyak Aytekin  2 , Cem Şimşek  3 , Osman Dağ  4 , Deniz Çağdaş  2 , Yasemin H Balaban  3
Affiliations

Inborn Errors of Immunity in Adults with Autoimmune Liver Diseases

Şefika Nur Ayar et al. Turk J Gastroenterol. 2024 Jul.

Abstract

Background/aims: Inborn errors of immunity (IEI) may associate with autoimmune diseases, including autoimmune liver diseases (AILD). However, both the IEI frequency and secondary effects of immunosuppressives are unknown in patients with AILD due to the lack of data. We aimed to evaluate the ratio of IEI in AILD.

Materials and methods: A total of 82 patients with AILD (39 autoimmune hepatitis, 32 primary biliary cholangitis, 7 variant syndromes (VS), and 4 primary sclerosing cholangitis patients) were included in this single-center, cross-sectional, and descriptive study. The patients were evaluated and classified according to diagnostic criteria for IEI.

Results: Out of 82 patients with AILD, female/male ratio was 3.6. Median age of diagnosis of AILD was 45 years. We diagnosed 15 (18%) patients with immunodeficiency (ID). Inborn errors of immunity ratio was highest in VS patient group (29%). Out of 15 patients with ID, 4 (4.8%) patients had common variable immunodeficiency, 4 (4.8%) had partial immunoglobulin A deficiency, 4 (4.8%) had selective immunoglobulin M deficiency, and 3 (3.6%) had combined immunodeficiency.

Conclusion: We detect ID in about one-fifth of the patients with AILD. The present study showed a significant risk of IEI that is blurred by the shadow of immune suppressive treatments. We suggest that the AILD patients with ID will benefit from the individualized and targeted therapeutic options used in IEI. Further research with larger patient groups and long-term follow-up are desperately needed to elucidate the diagnostic, therapeutic, and prognostic impacts of IEI-related individualized therapy on AILD patients.

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Conflict of interest statement

Declaration of Interests: Yasemin Balaban is a Section Editor and Cem Şimşek is an Associate Editor at the Turkish Journal of Gastroenterology, however, their involvement in the peer review process were solely as an author. Other authors have no conflicts of interest to declare.

Figures

Figure 1.
Figure 1.
Frequency and distribution of immunodeficiency in AILD groups. Immunodeficiency was detected in 18% (15/82) of AILD patients (the number of diseases are given according to IEI classification). Immunodeficiencies were detected in 23% of AIH (9/39 patients; 4 PIgAD, 3 SIgMD, and 2 CVID), 9% of PBC (3/32 patients; 2 CID and 1 CVID), 25% of PSC (1/4 patient; 1 SIgMD), and 29% of VS (2/7 patients; 1 CID and 1 CVID). AIH, autoimmune hepatitis; AILD, autoimmune liver disease; CID, combined immunodeficiency; CVID, common variable immunodeficiency; IEI, inborn errors of immunity; PBC, primary biliary cholangitis; pIgAD, partial IgA deficiency; PSC, primary sclerosing cholangitis; SIgMD, selective immunoglobulin M deficiency; VS, variant syndrome.
Figure 2.
Figure 2.
Infection history in AILD patients with and without immunodeficiency. Comparison percentages of patients with and without ID in terms of infection history. Those marked with an asterisk are statistically significant (P < .05). AILD, autoimmune liver disease; ID, immunodeficiency; URTI, upper respiratory tract infection; P.E., parenteral.
See this image and copyright information in PMC

References

    1. Tiegs G, Lohse AW. Immune tolerance: what is unique about the liver. J Autoimmun. 2010;34(1):1 6. ( 10.1016/j.jaut.2009.08.008) - DOI - PubMed
    1. Invernizzi P. Liver auto-immunology: the paradox of autoimmunity in a tolerogenic organ. J Autoimmun. 2013;46:1 6. ( 10.1016/j.jaut.2013.08.006) - DOI - PubMed
    1. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2019 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2020;40(1):24 64. ( 10.1007/s10875-019-00737-x) - DOI - PMC - PubMed
    1. Fischer A, Provot J, Jais JP, Alcais A, Mahlaoui N, members of the CFPIDsg. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017;140(5):1388 1393.e8. ( 10.1016/j.jaci.2016.12.978) - DOI - PubMed
    1. Grunebaum E, Avitzur Y. Liver-associated immune abnormalities. Autoimmun Rev. 2019;18(1):15 20. ( 10.1016/j.autrev.2018.06.016) - DOI - PubMed

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