IL-2 receptor alpha deficiency and features of primary biliary cirrhosis

Christopher A. Aoki, Chaim M. Roifman, Zhe Xiong Lian, Christopher Bowlus, Gary L. Norman, Yehuda Shoenfeld, Ian R. Mackay, M. Eric Gershwin

Research output: Contribution to journalArticle

138 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)50-53
Number of pages4
JournalJournal of Autoimmunity
Volume27
Issue number1
DOIs
StatePublished - Aug 2006

Fingerprint

Biliary Liver Cirrhosis
Interleukin-2 Receptors
Regulatory T-Lymphocytes
Stem Cell Transplantation
Autoimmunity
Liver Diseases
Lymphocytes
Lymphopenia
Autoimmune Diseases
Theoretical Models
Parents
T-Lymphocytes
Antibodies
Infection
Serum

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 journalArticle

Aoki, CA, Roifman, CM, Lian, ZX, Bowlus, C, Norman, GL, Shoenfeld, Y, Mackay, IR & Gershwin, ME 2006, 'IL-2 receptor alpha deficiency and features of primary biliary cirrhosis', Journal of Autoimmunity, vol. 27, no. 1, pp. 50-53. https://doi.org/10.1016/j.jaut.2006.04.005
Aoki, Christopher A. ; Roifman, Chaim M. ; Lian, Zhe Xiong ; Bowlus, Christopher ; Norman, Gary L. ; Shoenfeld, Yehuda ; Mackay, Ian R. ; Gershwin, M. Eric. / IL-2 receptor alpha deficiency and features of primary biliary cirrhosis. In: Journal of Autoimmunity. 2006 ; Vol. 27, No. 1. pp. 50-53.
@article{ed7fe1ecb32a45a1901d651515e437e3,
title = "IL-2 receptor alpha deficiency and features of primary biliary cirrhosis",
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.",
keywords = "Allogenic stem cell transplant, CD4+ CD25+ T regulatory cells, IL-2 receptor alpha deficiency, Molecular mimicry, Pediatric, Primary biliary cirrhosis",
author = "Aoki, {Christopher A.} and Roifman, {Chaim M.} and Lian, {Zhe Xiong} and Christopher Bowlus and Norman, {Gary L.} and Yehuda Shoenfeld and Mackay, {Ian R.} and Gershwin, {M. Eric}",
year = "2006",
month = "8",
doi = "10.1016/j.jaut.2006.04.005",
language = "English (US)",
volume = "27",
pages = "50--53",
journal = "Journal of Autoimmunity",
issn = "0896-8411",
publisher = "Academic Press Inc.",
number = "1",

}

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 -