Abstract
A patient with a novel homozygous mutation in ITK presented with autoimmune lymphoproliferative syndrome, and had impaired TCR-driven Fas ligand upregulation, providing a mechanism for the T cell lymphoproliferation.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Autoimmune Lymphoproliferative Syndrome / genetics*
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Consanguinity
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Female
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Humans
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Infant
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Mutation, Missense
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Pedigree
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Protein-Tyrosine Kinases / deficiency
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Protein-Tyrosine Kinases / genetics*
Substances
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Protein-Tyrosine Kinases
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emt protein-tyrosine kinase