Varaico: Literature-Extracted Genetic Variants

Gene:ITK
Variant:p.Q17*
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ITK

NM_005546.4:p.Q17*

Associated Papers

Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview.

Aliyeva G et al.

Journal of Clinical Immunology, 2025

Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.

Kent A et al.

Frontiers in Immunology, 2021

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

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

Ghosh S et al.

Frontiers in Immunology, 2018

Atypical Clinical Course in Pediatric Hodgkin Lymphoma: Association With Germline Mutations in Interleukin-2-inducible T-Cell Kinase.

Alme C et al.

Journal of Pediatric Hematology/oncology, 2015

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

Ghosh S et al.

Journal of Clinical Immunology, 2014

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia.

Serwas NK et al.

Blood, 2014

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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."