Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region

Clin Immunol. 2012 Oct;145(1):55-8. doi: 10.1016/j.clim.2012.07.013. Epub 2012 Aug 6.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • B-Lymphocytes / immunology
  • B-Lymphocytes / pathology
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / immunology*
  • DiGeorge Syndrome / pathology
  • Female
  • Flow Cytometry
  • Humans
  • Immunoglobulins / blood
  • Immunoglobulins / immunology
  • Immunophenotyping
  • Qb-SNARE Proteins / genetics
  • Qb-SNARE Proteins / immunology*
  • Qc-SNARE Proteins / genetics
  • Qc-SNARE Proteins / immunology*
  • Receptors, Purinergic P2 / genetics
  • Receptors, Purinergic P2 / immunology*
  • Sequence Analysis, DNA
  • T-Lymphocyte Subsets / immunology
  • T-Lymphocyte Subsets / pathology
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology
  • Transcription Factors / genetics
  • Transcription Factors / immunology*

Substances

  • Immunoglobulins
  • LZTR1 protein, human
  • Qb-SNARE Proteins
  • Qc-SNARE Proteins
  • Receptors, Purinergic P2
  • SNAP29 protein, human
  • Transcription Factors
  • purinoceptor P2X6