Journal of autoimmunity, 2006-08, Vol.27 (1), p.50-53
2006
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- Autor(en) / Beteiligte
- Titel
- IL-2 receptor alpha deficiency and features of primary biliary cirrhosis
- Ist Teil von
- Journal of autoimmunity, 2006-08, Vol.27 (1), p.50-53
- Ort / Verlag
- London: Elsevier Ltd
- Erscheinungsjahr
- 2006
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Congenital immune deficiency states have often been valuable experimental models of nature that have significantly enhanced our understanding of the immune response. The relationship between CD4+, CD25+ and Treg cells in the induction of autoimmunity has attracted significant attention. We report herein a male child of consanguineous parents who developed at six months recurrent infections, and at age 5 years, liver dysfunction with serological expression of primary biliary cirrhosis (PBC), an autoimmune liver disease that usually affects middle-aged women. Histologically, there was intense mononuclear cell lymphoid infiltration of the intrahepatic portal tracts, CD3+ CD4+ T cell lymphopenia in blood and serum antibody to PDC-E2. Peripheral blood lymphocytes were completely deficient of the alpha subunit of the IL-2 receptor (IL-2Rα, CD 25), a marker for regulatory T cells (Tregs). Allogenic stem cell transplantation led to full recovery. This case illustrates the role of deficiency of CD4+ CD25+ Treg cells in causing autoimmunity, and speaks to the potential use of allogenic stem cell transplantation for immunoreconstitution in adult PBC.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0896-8411eISSN: 1095-9157DOI: 10.1016/j.jaut.2006.04.005Titel-ID: cdi_proquest_miscellaneous_68781900
- Format
- –
- Schlagworte
- Allogenic stem cell transplant, Autoimmunity, Biological and medical sciences, CD4+ CD25+ T regulatory cells, Child, Preschool, Consanguinity, Fundamental and applied biological sciences. Psychology, Fundamental immunology, General aspects, Hematopoietic Stem Cell Transplantation, Humans, IL-2 receptor alpha deficiency, Immunopathology, Interleukin-2 Receptor alpha Subunit, Liver Cirrhosis, Biliary - etiology, Liver Cirrhosis, Biliary - immunology, Liver Cirrhosis, Biliary - therapy, Male, Medical sciences, Molecular mimicry, Pediatric, Primary biliary cirrhosis, Receptors, Interleukin-2 - deficiency, T-Lymphocytes, Regulatory - pathology