Abstract | OBJECTIVE:
Interleukin 12 receptor beta 1 (IL-12Rβ1) deficiency is a primary immunodeficiency that exposes affected individuals to an augmented risk of intracellular pathogen-mediated infections. The paradoxical presence of autoimmune manifestations in immune-deficient patients has been recognized, but the basis of this phenomenon is unclear, with the role of frequent infections being a possible trigger to break tolerance. Our study aimed to analyze extensively a profile of autoantibodies in a clinically well-defined case series of patients with IL-12Rβ1 deficiency. METHODS: Eight patients with IL-12Rβ1 deficiency referred to Children's Medical Center in Tunis, Tunisia, during 1995-2012 were enrolled in the study. Sixteen age- and gender-matched blood donors served as controls. Serum, liver-related autoantibodies immunoglobulin (Ig)G, IgM, IgA were tested by ELISA and by standard indirect immunofluorescence on Hep-2 cells. RESULTS: CONCLUSIONS: This is the first report of a serological analysis in patients with an IL-12Rβ1 deficiency. Despite the difficulty in interpreting the role of the IL-12, the evidence of liver-specific autoantibodies confirms the importance its signal in liver autoimmunity.
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Authors | Vincenzo Ronca, Qu Bo Chen, Vasiliky Lygoura, Imen Ben-Mustapha, Zakera Shums, Mehdi Trifa, Marco Carbone, Clara Mancuso, Chiara Milani, Francesca Bernuzzi, Xiong Ma, Nourhen Agrebi, Gary L Norman, Christopher Chang, Merrill Eric Gershwin, Mohamed-Ridha Barbouche, Pietro Invernizzi |
Journal | Journal of digestive diseases
(J Dig Dis)
Vol. 20
Issue 7
Pg. 363-370
(Jul 2019)
ISSN: 1751-2980 [Electronic] Australia |
PMID | 31111679
(Publication Type: Journal Article)
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Copyright | © 2019 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd. |
Chemical References |
- Autoantibodies
- Interleukin-12 Receptor beta 1 Subunit
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Topics |
- Adult
- Autoantibodies
(blood, immunology)
- Autoimmune Diseases
(blood, immunology)
- Female
- Humans
- Infant
- Interleukin-12 Receptor beta 1 Subunit
(deficiency, immunology)
- Liver
(immunology)
- Liver Diseases
(blood, immunology)
- Male
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