ArticleJournal of clinical immunology2020
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- TfR1 deficiency beyond combined immunodeficiency. Pivotal role of mitochondrial function and iron-sulfur cluster biogenesis in disease pathogenesis.Genes & diseases · 2027Article
- Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review.HemaSphere · 2026Review
- Single-cell assessment of iron content in primary human T cells using laser ablation inductively coupled plasma mass spectrometry.Cell reports methods · 2026Article
- TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk.Journal of clinical immunology · 2026Review
- Iron as an immunometabolic signal in infection and inflammation.Frontiers in immunology · 2026Review
- Iron and the immune system.Nature reviews. Immunology · 2025Review
- Multi-function of adipose-derived stem cells on gut disorder: from bench to bedside.Stem cell research & therapy · 2025Review
- Intricating connections: the role of ferroptosis in systemic lupus erythematosus.Frontiers in immunology · 2025Review
- Iron, Hepcidin, and Immunity.Advances in experimental medicine and biology · 2025Review
- Why cells need iron: a compendium of iron utilisation.Trends in endocrinology and metabolism: TEM · 2024Review
- Effects of Iron Status on Adaptive Immunity and Vaccine Efficacy: A Review.Advances in nutrition (Bethesda, Md.) · 2024Review
- Iron regulates the quiescence of naive CD4 T cells by controlling mitochondria and cellular metabolism.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.Journal of clinical immunology · 2024Article
- Cellular iron governs the host response to malaria.PLoS pathogens · 2023Article
- Endosome Traffic Modulates Pro-Inflammatory Signal Transduction in CD4International journal of molecular sciences · 2023Review
- Elevated transferrin receptor impairs T cell metabolism and function in systemic lupus erythematosus.Science immunology · 2023Article
- Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology.AJNR. American journal of neuroradiology · 2022Article
- Elucidating the Gene Signatures and Immune Cell Types in HIV-Infected Immunological Non-Responders by Bioinformatics Analyses.International journal of general medicine · 2022Article
- Article
- Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.American journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCombined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. In this study, we further characterize the clinical and immunological phenotypes in a cohort of eight patients.
methodsA retrospective review of clinical and immunological features of patients diagnosed with a TFRC gene mutation between 2015 and 2019 in three tertiary centers.
resultsEight patients from six unrelated families were enrolled. The patients had a median age of 7 years (4-32 years). All patients presented with recurrent sinopulmonary infections, chronic diarrhea, and failure to thrive in early life. Less common features were skin abscesses, conjunctivitis, global developmental delay, optic nerve atrophy, vitiligo, multinodular goiter, and hemophagocytic lymphohistiocytosis-like symptoms. All patients had intermittent neutropenia and 87% of the patients had recurrent thrombocytopenia. Anemia was found in 62%. All patients had hypogammaglobinemia and one had a persistent high IgM level. All patients had impaired function of T cells. The same homozygous missense mutation c.58T>C:p.Y20H, in the TFRC gene, was detected in all patients. Stem cell transplantation from matched donors was successful in two patients. Five patients did not receive stem cell transplantation, and they are on prophylactic treatment. One patient died due to severe sepsis and neurological complications.
conclusionThis report provides a large cohort with a long follow up of patients with this disease. Our cohort showed variable disease severity.
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