Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.D260V
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FAS

NM_000043.6:p.D260V

Associated Papers

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.

Xu X et al.

Journal of Clinical Immunology, 2024

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

Synthetic receptor platform to identify loss-of-function single nucleotide variants and designed mutants in the death receptor Fas/CD95.

Minafra AR et al.

The Journal of Biological Chemistry, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Batlle-Masó L et al.

Frontiers in Immunology, 2022

Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.

Hafezi N et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.

Ben-Mustapha I et al.

Journal of Leukocyte Biology, 2018

The expanding spectrum of the autoimmune lymphoproliferative syndromes.

Oliveira JB

Current Opinion in Pediatrics, 2013

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Lambotte O et al.

Haematologica, 2013

A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis.

Lo B et al.

Journal of Clinical Immunology, 2013

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Neven B et al.

Blood, 2011

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS et al.

Journal of Immunology (baltimore, Md. : 1950), 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."