Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report

Int J Immunogenet. 2012 Aug;39(4):362-4. doi: 10.1111/j.1744-313X.2012.01105.x. Epub 2012 Mar 6.

Abstract

Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.

Publication types

  • Case Reports

MeSH terms

  • CD4-Positive T-Lymphocytes / metabolism
  • CD8-Positive T-Lymphocytes / metabolism
  • Codon, Nonsense / genetics
  • Female
  • Genetic Association Studies
  • Homozygote
  • Humans
  • Infant
  • Lymphocyte Count
  • Mutation*
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / metabolism
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • Codon, Nonsense
  • RFXAP protein, human
  • Transcription Factors

Supplementary concepts

  • Bare lymphocyte syndrome 2