Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR2
Variant:p.T101I
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HAVCR2

NM_032782.5:p.T101I

Associated Papers

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Sukrithan V et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf

A novel loss of function mutation in the HAVCR2 gene in a patient diagnosed with Hodgkin's lymphoma.

Erdem S et al.

Immunologic Research, 2025

Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.

Machan S et al.

Actas Dermo-sifiliograficas, 2025

Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents.

Youthong P et al.

Orphanet Journal of Rare Diseases, 2024

Genetic profiles and clinical features in subcutaneous panniculitis-like T-cell lymphomas.

Okamura Y et al.

Cancer Science, 2024

The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.

Ariolli A et al.

International Journal of Molecular Sciences, 2024

An investigation of germline variants of HAVCR2 in subcutaneous panniculitis-like T-cell lymphoma and related lesions in a North American population.

Cheng J et al.

Haematologica, 2024

Therapeutic efficacy of allogenic haematopoietic stem cell transplantation from an appropriate sibling donor to a patient with subcutaneous panniculitis-like T-cell lymphoma with a germline homozygous HAVCR2 mutation.

Morisaka H et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

Pediatric lymphoproliferative disorders associated with inborn errors of immunity.

Cheng J et al.

Clinical Immunology (orlando, Fla.), 2024

Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.

Pernaa N et al.

Journal of Clinical Immunology, 2024

Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency.

Baldrich A et al.

Journal of Clinical Immunology, 2024

Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia.

Nagy ZF et al.

Pathology Oncology Research : Por, 2024

Subcutaneous panniculitis-like T-cell lymphoma associated with hemophagocytic lymphohistiocytosis: a systematic review of 63 patients reported in the literature.

Ou W et al.

Clinical and Experimental Medicine, 2023

Germline HAVCR2 mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis.

Moonla C et al.

Haematologica, 2023

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

Langenberg KPS et al.

European Journal of Cancer (oxford, England : 1990), 2022

36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Atschekzei F et al.

Rmd Open, 2022

Treatment of an HLH-mimic disease based on HAVCR2 variants with absent TIM-3 expression.

Tromp SAM et al.

Blood Advances, 2022

A novel germline HAVCR2 (TIM-3) compound heterozygous mutation is related to hemophagocytic lymphohistiocytic syndrome in EBV-positive peripheral T-cell lymphoma (NOS) with down-regulated TIM-3 signaling.

Zhang Y et al.

Frontiers in Oncology, 2022

Subcutaneous panniculitis-like T-cell lymphoma in a 14-year-old female homozygous for HAVCR2 mutation.

Frederiks AJ et al.

The Australasian Journal of Dermatology, 2021

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Subcutaneous Panniculitis-like T-Cell Lymphoma With Hemophagocytic Lymphohistiocytosis Syndrome in Children and Its Essential Role of HAVCR2 Gene Mutation Analysis.

Chaweephisal P et al.

Journal of Pediatric Hematology/oncology, 2021

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.

Wegehaupt O et al.

Pediatric Blood & Cancer, 2020

TIM3 comes of age as an inhibitory receptor.

Wolf Y et al.

Nature Reviews. Immunology, 2020

Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma.

Polprasert C et al.

Blood Advances, 2019

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

Good prognosis of adult hemophagocytic lymphohistiocytosis associated with the germline HAVCR2 mutation.

Boonyabaramee P et al.

Experimental Hematology, 0

Pediatric Cutaneous T-Cell Neoplasms: Clinical and Pathological Features, Updated Classifications, and Critical Differential Diagnoses.

Cheng J et al.

Pediatric Dermatology, 0

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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."