Varaico: Literature-Extracted Genetic Variants

Gene:CD27
Variant:p.W8*
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CD27

NM_001242.5:p.W8*

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

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

Ghosh S et al.

Blood, 2020

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Keller MD et al.

The Journal of Allergy and Clinical Immunology, 2016

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

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.

van Montfrans JM et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."