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-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.
authors.affiliation: Division of Gastroenterology, University of California at Davis, 95616, USA.
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Aoki
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
authors.forename: Zhe-Xiong
authors.initials: ZX
authors.lastname: Lian
authors.forename: Christopher L
authors.initials: CL
authors.lastname: Bowlus
authors.forename: Gary L
authors.initials: GL
authors.lastname: Norman
authors.forename: Yehuda
authors.initials: Y
authors.lastname: Shoenfeld
authors.forename: Ian R
authors.initials: IR
authors.lastname: Mackay
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
mesh_terms: D015551:Autoimmunity; D002675:Child, Preschool; D003241:Consanguinity; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit; D008105:Liver Cirrhosis, Biliary / Q000209:etiology* / Q000276:immunology / Q000628:therapy; D008297:Male; D015375:Receptors, Interleukin-2 / Q000172:deficiency*; D050378:T-Lymphocytes, Regulatory / Q000473:pathology
chemical_list: C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit; D015375:Receptors, Interleukin-2