Associated Papers
TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk.
Aljohani AH
Journal of Clinical Immunology, 2026
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.
Kashevarova AA et al.
Molecular Genetics & Genomic Medicine, 2025
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE et al.
Clinical Immunology (orlando, Fla.), 2024
A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.
Aba Ü et al.
Journal of Clinical Immunology, 2024
Transferrin receptor levels and its rare variant are associated with human obesity.
Qiu J et al.
Journal of Diabetes, 2024
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.
Aljohani AH et al.
Journal of Clinical Immunology, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System.
Porto G et al.
Pharmaceuticals (basel, Switzerland), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH et al.
Nature Genetics, 2016
The requirement of iron transport for lymphocyte function.
Lo B
Nature Genetics, 2016
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