Article
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
Journal of clinical immunology - 1 Nov 2023
Roussel Lucie, Pham-Huy Anne, Yu Andrea C, Venkateswaran Sunita, Perez Anna, Bourdel Guillaume, Sun Yichun, Villavicencio Stephanya Tellez, Bernier Stéphane, Li Yongbiao, Kazimerczak-Brunet Makayla, Alattar Rolan, Déry Marc-André, Shapiro Adam J, Penner Justin, Vinh Donald C
Abstract excerpt
Autosomal recessive tyrosine kinase 2 (TYK2) deficiency is characterized by susceptibility to mycobacterial and viral infections. Here, we report a 4-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 effects of the TYK2 lesion were...
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