Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase

Neuropediatrics. 2000 Oct;31(5):265-8. doi: 10.1055/s-2000-9234.

Abstract

In this study we report on a patient affected by a brain migration disorder and a T-cell activation deficiency presumably inherited as an autosomal recessive trait. The immunological evaluation revealed that the mitogen stimulation failed to induce a proper up-regulation of membrane expression of T-cell activation markers, and cell proliferation. This functional impairment was associated with abnormalities of the signal transduction process that follows T-cell receptor stimulation. A constitutive hyperphosphorylation of the Fyn tyrosine kinase was documented. This is the first report on a T-cell signaling abnormality associated with a developmental brain disorder. Whether the alteration of Fyn, which plays a role in both neurological and immunological systems, is responsible for either disorder remains to be elucidated.

Publication types

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

MeSH terms

  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / enzymology
  • Brain Diseases, Metabolic, Inborn / immunology
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • CD3 Complex / genetics*
  • Cell Movement / genetics
  • Child, Preschool
  • Epilepsy / genetics
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Male
  • Phosphorylation
  • Protein-Tyrosine Kinases / genetics
  • Protein-Tyrosine Kinases / metabolism*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism*
  • Proto-Oncogene Proteins c-fyn
  • Receptors, Antigen, T-Cell / genetics*
  • Signal Transduction / genetics*

Substances

  • CD3 Complex
  • Proto-Oncogene Proteins
  • Receptors, Antigen, T-Cell
  • Protein-Tyrosine Kinases
  • FYN protein, human
  • Proto-Oncogene Proteins c-fyn

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