Rieux-Laucat F, Bahadoran P, Brousse N, Selz F, Fischer A, Le Deist F, De Villartay J P
Unité INSERM 429, Hôpital Necker-Enfants Malades, 75743 Paris, Cedex 15, France.
J Clin Invest. 1998 Jul 15;102(2):312-21. doi: 10.1172/JCI332.
Omenn's syndrome is an inherited human combined immunodeficiency condition characterized by the presence of a large population of activated and tissue-infiltrating T cells. Analysis of the TCRB repertoire revealed a highly restricted TCRBV usage in three patients. More strikingly, T cell clones from the three patients expressed TCRB chains with VDJ junction similarities, suggesting a common antigenic specificity. Analysis of the TCRA repertoire in one patient also revealed a restricted TCRAV usage. Finally, analysis of the TCRBV repertoire of tissue-infiltrating T cells in one patient suggested nonrandom tissue migration. These results suggest that the oligoclonal expansion of T cells observed in Omenn's syndrome could be the consequence of autoimmune proliferation generated by a profound defect in lymphocyte development.
奥门氏综合征是一种遗传性人类联合免疫缺陷病,其特征是存在大量活化的和浸润组织的T细胞。对TCRB库的分析显示,三名患者的TCRBV使用情况高度受限。更引人注目的是,这三名患者的T细胞克隆表达的TCRB链具有VDJ连接相似性,提示存在共同的抗原特异性。对一名患者的TCRA库分析也显示TCRAV使用受限。最后,对一名患者组织浸润性T细胞的TCRBV库分析提示存在非随机的组织迁移。这些结果表明,在奥门氏综合征中观察到的T细胞寡克隆扩增可能是淋巴细胞发育严重缺陷导致的自身免疫性增殖的结果。