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

Clin Immunol. 2004 Jan;110(1):63-70. doi: 10.1016/j.clim.2003.09.002.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone Marrow Transplantation / immunology
  • Child
  • Child, Preschool
  • Dendritic Cells / immunology*
  • Epithelium / immunology
  • Female
  • Genetic Diseases, X-Linked / immunology*
  • Humans
  • Infant
  • Lymphatic Diseases / immunology*
  • Lymphocytes / immunology
  • Male
  • Severe Combined Immunodeficiency / immunology*
  • Skin / immunology
  • Skin / pathology
  • Thymus Gland / cytology
  • Thymus Gland / immunology*
  • Thymus Gland / pathology