IL-2 receptor alpha deficiency and features of primary biliary cirrhosis
IL-2 receptor alpha deficiency and features of primary biliary cirrhosis
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DOI：
10.1016/j.jaut.2006.04.005
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发表时间：
2006-08-01
影响因子：
12.8
通讯作者：
Gershwin, M. Eric
中科院分区：
文献类型：
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作者：
Aoki, Christopher A.;Roifman, Chaim M.;Gershwin, M. Eric
先天性免疫缺陷状态通常是有价值的自然实验模型，大大增强了我们对免疫反应的理解。CD 4+、CD 25+和Treg细胞在自身免疫诱导中的关系引起了人们的广泛关注。我们在此报告一个男性孩子的近亲父母谁开发在6个月复发性感染，并在5岁，肝功能障碍与原发性胆汁性肝硬化（PBC），自身免疫性肝病，通常影响中年妇女的血清学表达。组织学上，肝内门束有强烈的单核细胞淋巴样浸润，血液和血清PDC-E2抗体中CD 3 + CD 4 + T细胞淋巴细胞减少。外周血淋巴细胞完全缺乏IL-2受体的α亚单位（IL-2 R α，CD 25），这是调节性T细胞（TcR）的标志物。同种异体干细胞移植导致完全康复。该病例说明了CD 4 + CD 25 + Treg细胞缺乏在引起自身免疫中的作用，并说明了同种异体干细胞移植在成人PBC免疫重建中的潜在用途。(c)2006爱思唯尔有限公司版权所有。
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-2R alpha, 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. (c) 2006 Elsevier Ltd. All rights reserved.