Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.

Journal Article (Journal Article)

The X-linked form of severe combined immunodeficiency (X-SCID) is caused by mutations in the common cytokine receptor gamma chain and results in lack of T and NK cells and defective B cells. Without immune reconstitution, X-SCID patients typically die from infection during infancy. This report describes thymic epithelial (TE), lymphocyte, and dendritic cell (DC) differentiation in the thymic microenvironment of seven X-SCID patients who died before or after treatment for their immunodeficiency. X-SCID thymus consisted predominately of TE cells without grossly evident corticomedullary distinction. CD3+ and CD1a+ developing T cells and CD83+ thymic DC were reduced >50-fold when compared to age- and gender-matched control thymus (P < 0.001). TE expression of epithelial differentiation markers CK14, involucrin, and high molecular weight cytokeratins also differed in X-SCID versus normal thymus. These histopathologic findings indicate that in addition to T cells, thymic DC development and differentiation of TE cells are also abnormal in X-SCID.

Full Text

Duke Authors

Cited Authors

  • Hale, LP; Buckley, RH; Puck, JM; Patel, DD

Published Date

  • January 2004

Published In

Volume / Issue

  • 110 / 1

Start / End Page

  • 63 - 70

PubMed ID

  • 14962797

International Standard Serial Number (ISSN)

  • 1521-6616

Digital Object Identifier (DOI)

  • 10.1016/j.clim.2003.09.002


  • eng

Conference Location

  • United States