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-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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 50-53 |
| Number of pages | 4 |
| Journal | Journal of Autoimmunity |
| Volume | 27 |
| Issue number | 1 |
| DOIs | |
| State | Published - Aug 2006 |
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Keywords
- Allogenic stem cell transplant
- CD4+ CD25+ T regulatory cells
- IL-2 receptor alpha deficiency
- Molecular mimicry
- Pediatric
- Primary biliary cirrhosis
ASJC Scopus subject areas
- Immunology
- Immunology and Allergy
Cite this
IL-2 receptor alpha deficiency and features of primary biliary cirrhosis. / Aoki, Christopher A.; Roifman, Chaim M.; Lian, Zhe Xiong; Bowlus, Christopher; Norman, Gary L.; Shoenfeld, Yehuda; Mackay, Ian R.; Gershwin, M. Eric.
In: Journal of Autoimmunity, Vol. 27, No. 1, 08.2006, p. 50-53.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - IL-2 receptor alpha deficiency and features of primary biliary cirrhosis
AU - Aoki, Christopher A.
AU - Roifman, Chaim M.
AU - Lian, Zhe Xiong
AU - Bowlus, Christopher
AU - Norman, Gary L.
AU - Shoenfeld, Yehuda
AU - Mackay, Ian R.
AU - Gershwin, M. Eric
PY - 2006/8
Y1 - 2006/8
N2 - 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.
AB - 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.
KW - Allogenic stem cell transplant
KW - CD4+ CD25+ T regulatory cells
KW - IL-2 receptor alpha deficiency
KW - Molecular mimicry
KW - Pediatric
KW - Primary biliary cirrhosis
UR - http://www.scopus.com/inward/record.url?scp=33747763675&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33747763675&partnerID=8YFLogxK
U2 - 10.1016/j.jaut.2006.04.005
DO - 10.1016/j.jaut.2006.04.005
M3 - Article
C2 - 16904870
AN - SCOPUS:33747763675
VL - 27
SP - 50
EP - 53
JO - Journal of Autoimmunity
JF - Journal of Autoimmunity
SN - 0896-8411
IS - 1
ER -