ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
Where this comes from
- Record sourced from PubMed, PMID 32628964.
- Also identified by DOI 10.1016/j.jaci.2020.06.019 and PMC identifier 7779661.
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Abstract
A patient with a novel homozygous mutation in <i>ITK</i> presented with autoimmune lymphoproliferative syndrome, and had impaired TCR-driven Fas ligand upregulation, providing a mechanism for the T cell lymphoproliferation.
Medical subject headings
- Autoimmune Lymphoproliferative Syndrome
- Protein-Tyrosine Kinases