Intrinsic defects of B cell function in X-linked severe combined immunodeficiency

Eur J Immunol. 2000 Mar;30(3):732-7. doi: 10.1002/1521-4141(200003)30:3<732::AID-IMMU732>3.0.CO;2-L.

Abstract

The cytokine receptor common gamma chain mutation in X-linked SCID results in a failure of T and NK cell development and an as yet undefined defect of B cells. Using immunoglobulin isotype-specific reverse transcription-PCR we show that although hematopoietic stem cell transplantation restores a diverse repertoire of class-switched B cell clones, on further analysis these are almost all of donor origin. This suggests that host B cells, which predominate after unconditioned transplantation, are still defective even in the presence of normal T cells. These studies imply that effective humoral reconstitution can only be achieved by the engraftment of normal donor B cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes / immunology*
  • Base Sequence
  • Child, Preschool
  • DNA Primers / genetics
  • Genetic Linkage
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Immunoglobulin Switch Region / genetics
  • Immunoglobulin gamma-Chains / genetics
  • Infant
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / therapy
  • Transplantation Conditioning
  • X Chromosome / genetics

Substances

  • DNA Primers
  • Immunoglobulin gamma-Chains