Varaico: Literature-Extracted Genetic Variants

Gene:CD27
Variant:p.C53Y
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CD27

NM_001242.5:p.C53Y

Associated Papers

Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27.

Yang R et al.

Biorxiv : the Preprint Server for Biology, 2026

Genetics of Primary Hemophagocytic Lymphohistiocytosis.

Karageorgos S et al.

Advances in Experimental Medicine and Biology, 2024

New Presentation of CD27 Deficiency; Coronary Ectasia and COVID-19.

Golchehre Z et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2023

Structural delineation and phase-dependent activation of the costimulatory CD27:CD70 complex.

Liu W et al.

The Journal of Biological Chemistry, 2021

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S et al.

Blood, 2020

Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease.

Kishore R et al.

Bmj Case Reports, 2020

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

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S1

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

Alkhairy OK et al.

The Journal of Allergy and Clinical Immunology, 2015

Utility of next generation sequencing in clinical primary immunodeficiencies.

Raje N et al.

Current Allergy and Asthma Reports, 2014

New facets of antibody deficiencies.

Liadaki K et al.

Current Opinion in Immunology, 2013

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

Salzer E et al.

Haematologica, 2013

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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."