From murine to human nude/SCID: the thymus, T-cell development and the missing link

Clin Dev Immunol. 2012:2012:467101. doi: 10.1155/2012/467101. Epub 2012 Mar 5.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell Differentiation / immunology
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / immunology*
  • DiGeorge Syndrome / pathology
  • Disease Models, Animal
  • Epithelial Cells / immunology
  • Epithelial Cells / pathology
  • Forkhead Transcription Factors / genetics
  • Forkhead Transcription Factors / immunology*
  • Humans
  • Mice
  • Mice, Nude
  • Mice, SCID
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / pathology
  • Skin / immunology
  • Skin / pathology
  • T-Lymphocytes / immunology*
  • T-Lymphocytes / pathology
  • Thymus Gland / immunology
  • Thymus Gland / pathology

Substances

  • Forkhead Transcription Factors
  • Whn protein