Romano Rosa, Palamaro Loredana, Fusco Anna, Iannace Leucio, Maio Stefano, Vigliano Ilaria, Giardino Giuliana, Pignata Claudio
Department of Pediatrics, "Federico II" University, Via Pansini 5, 80131 Naples, Italy.
Clin Dev Immunol. 2012;2012:467101. doi: 10.1155/2012/467101. Epub 2012 Mar 5.
Primary immunodeficiencies (PIDs) are disorders of the immune system, which lead to increased susceptibility to infections. T-cell defects, which may affect T-cell development/function, are approximately 11% of reported PIDs. The pathogenic mechanisms are related to molecular alterations not only of genes selectively expressed in hematopoietic cells but also of the stromal component of the thymus that represents the primary lymphoid organ for T-cell differentiation. With this regard, the prototype of athymic disorders due to abnormal stroma is the Nude/SCID syndrome, first described in mice in 1966. In man, the DiGeorge Syndrome (DGS) has long been considered the human prototype of a severe T-cell differentiation defect. More recently, the human equivalent of the murine Nude/SCID has been described, contributing to unravel important issues of the T-cell ontogeny in humans. Both mice and human diseases are due to alterations of the FOXN1, a developmentally regulated transcription factor selectively expressed in skin and thymic epithelia.
原发性免疫缺陷病（PIDs）是免疫系统疾病，会导致对感染的易感性增加。T细胞缺陷可能影响T细胞发育/功能，约占报告的原发性免疫缺陷病的11%。其致病机制不仅与造血细胞中选择性表达的基因的分子改变有关，还与代表T细胞分化的主要淋巴器官的胸腺基质成分的分子改变有关。就此而言，由于基质异常导致的无胸腺疾病的原型是裸鼠/重症联合免疫缺陷综合征，于1966年首次在小鼠中描述。在人类中，迪格奥尔格综合征（DGS）长期以来一直被认为是严重T细胞分化缺陷的人类原型。最近，已经描述了与小鼠裸鼠/重症联合免疫缺陷相当的人类疾病，这有助于揭示人类T细胞个体发生的重要问题。小鼠和人类疾病都是由于FOXN1的改变引起的，FOXN1是一种在皮肤和胸腺上皮中选择性表达的受发育调控的转录因子。
