Article

A novel mutation causing complete TYK2 deficiency, with severe respiratory viral infections, EBV-driven lymphoma, and Jamestown Canyon viral encephalitis

2023-04-25

Abstract excerpt

<title>Abstract</title> <p>Autosomal recessive Tyrosine kinase 2 (TYK2) deficiency is characterized by susceptibility to mycobacterial and viral infections. Here, we report a four-year-old female with severe respiratory viral infections, EBV-driven Burkitt-like lymphoma, and infection with the neurotropic Jamestown Canyon virus. A novel, homozygous c.745C > T (p.R249*) variant was found in TYK2. The deleterious e...

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Literature Corpus work: 1aca65bd-347a-5c20-811a-459f50647b33
DOI: 10.21203/rs.3.rs-2817321/v1

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