Abstract |
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-2Ralpha, 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.
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Authors | Christopher A Aoki, Chaim M Roifman, Zhe-Xiong Lian, Christopher L Bowlus, Gary L Norman, Yehuda Shoenfeld, Ian R Mackay, M Eric Gershwin |
Journal | Journal of autoimmunity
(J Autoimmun)
Vol. 27
Issue 1
Pg. 50-3
(Aug 2006)
ISSN: 0896-8411 [Print] England |
PMID | 16904870
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- IL2RA protein, human
- Interleukin-2 Receptor alpha Subunit
- Receptors, Interleukin-2
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Topics |
- Autoimmunity
- Child, Preschool
- Consanguinity
- Hematopoietic Stem Cell Transplantation
- Humans
- Interleukin-2 Receptor alpha Subunit
- Liver Cirrhosis, Biliary
(etiology, immunology, therapy)
- Male
- Receptors, Interleukin-2
(deficiency)
- T-Lymphocytes, Regulatory
(pathology)
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