Varaico: Literature-Extracted Genetic Variants

Gene:TYK2
Variant:p.P216delFs
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TYK2

NM_003331.5:p.P216delFs

Associated Papers

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.

Roussel L et al.

Journal of Clinical Immunology, 2023

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.

Ogishi M et al.

The Journal of Experimental Medicine, 2022

Novel mutations of TYK2 leading to divergent clinical phenotypes.

Lv G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

A New Patient with Inherited TYK2 Deficiency.

Sarrafzadeh SA et al.

Journal of Clinical Immunology, 2020

A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review.

Wu P et al.

Frontiers in Pediatrics, 2020

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.

Fuchs S et al.

European Journal of Immunology, 2016

A new heterozygous TYK2 gene mutation: Case report and review of the literature.

Xie L et al.

International Journal of Immunopathology and Pharmacology, 0

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