Varaico: Literature-Extracted Genetic Variants

Gene:ITK
Variant:p.Y588*
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ITK

NM_005546.4:p.Y588*

Associated Papers

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

Ogishi M et al.

The Journal of Experimental Medicine, 2023

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis.

Fang M et al.

Journal of Clinical Immunology, 2019

Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.

Shadur B et al.

Clinical Immunology (orlando, Fla.), 2019

A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Riaz IB et al.

Frontiers in Immunology, 2019

Interleukin-2-Inducible T-Cell Kinase Deficiency-New Patients, New Insight?

Ghosh S et al.

Frontiers in Immunology, 2018

F-actin remodeling defects as revealed in primary immunodeficiency disorders.

Janssen WJ et al.

Clinical Immunology (orlando, Fla.), 2016

Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.

Ghosh S et al.

Journal of Clinical Immunology, 2014

Hematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders.

Shamriz O et al.

Clinical Immunology (orlando, Fla.), 2014

Genomic landscape of non-small cell lung cancer in smokers and never-smokers.

Govindan R et al.

Cell, 2012

Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.

Linka RM et al.

Leukemia, 2012

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

Stepensky P et al.

Haematologica, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."