Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase.
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.
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Related Subject Headings
- Signal Transduction
- Receptors, Antigen, T-Cell
- Proto-Oncogene Proteins c-fyn
- Proto-Oncogene Proteins
- Protein-Tyrosine Kinases
- Phosphorylation
- Neurology & Neurosurgery
- Male
- Immunologic Deficiency Syndromes
- Humans
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Signal Transduction
- Receptors, Antigen, T-Cell
- Proto-Oncogene Proteins c-fyn
- Proto-Oncogene Proteins
- Protein-Tyrosine Kinases
- Phosphorylation
- Neurology & Neurosurgery
- Male
- Immunologic Deficiency Syndromes
- Humans