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Clinical and Developmental ImmunologyVolume 2012 2012, Article ID 467101, 12 pages

Review ArticleDepartment of Pediatrics, “Federico II” University, Via Pansini 5, 80131 Naples, Italy

Received 12 October 2011; Accepted 9 December 2011

Academic Editor: Ana Lepique

Copyright © 2012 Rosa Romano et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.

Author: Rosa Romano, Loredana Palamaro, Anna Fusco, Leucio Iannace, Stefano Maio, Ilaria Vigliano, Giuliana Giardino, and Claudio P



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