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DOI: 10.1055/s-2000-9234
Georg Thieme Verlag Stuttgart · New York
Brain Migration Disorder and T-Cell Activation Deficiency Associated with Abnormal Signaling through TCR/CD3 Complex and Hyperactivity of Fyn Tyrosine Kinase[*]
Publication History
Publication Date:
31 December 2000 (online)
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.
Key words
Brain migration disorder - T-cell immunodeficiency - Signal transduction - Fyn tyrosine kinase
1 Financial support: This work was supported by “Progetto MURST-PRIN” (Research Program of National Relevance) 1999, and by Biomed 2 # CT98-3007.
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1 Financial support: This work was supported by “Progetto MURST-PRIN” (Research Program of National Relevance) 1999, and by Biomed 2 # CT98-3007.
Ph. D. Claudio Pignata
Department of Paediatrics Unit of Pediatric Immunology “Federico II” University
via S. Pansini 5
80131 Naples
Italy
Email: E-mail: pignata@unina.it