ArticleThe Journal of infectious diseases2021
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
Article in The Journal of infectious diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- The Hitchhiker Guide to CD4Frontiers in immunology · 2021Pooled it
- Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.The New England journal of medicine · 2023Trial
- Enrichment of Low-Abundance and Low-Molecular-Weight Proteins in Human Milk Using Mass Spectrometry-Based Proteomics.ACS omega · 2025Article
- Human genetics of Whipple's disease.Current opinion in rheumatology · 2025Review
- Resolution of Squamous-Cell Carcinoma by Restoring T-Cell Receptor Signaling.The New England journal of medicine · 2025Article
- CD4 expression controls epidermal stem cell balance.Scientific reports · 2025Article
- CD4, but not Cxcr6, is necessary for control of Pneumocystis murina infection.Microbes and infection · 2025Article
- Helper T cell immunity in humans with inherited CD4 deficiency.The Journal of experimental medicine · 2024Article
- Immune responses to human fungal pathogens and therapeutic prospects.Nature reviews. Immunology · 2023Review
- Pathogenesis and virulence ofVirulence · 2022Review
- Identification of immune-related genes and development of a prognostic model in mantle cell lymphoma.Annals of translational medicine · 2022Article
- Infections in the monogenic autoimmune syndrome APECED.Current opinion in immunology · 2021Review
- Beyond the Absence of CD4 T-Cell Count: A Novel Genetic CD4 T-Cell Deficiency Disorder With a Contingency Plan.The Journal of infectious diseases · 2021Article
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Authors and funding
22 authors at 6 institutions in 1 country.
Funding
Abstract
CD4 expression identifies a subset of mature T cells primarily assisting the germinal center reaction and contributing to CD8+ T-cell and B-cell activation, functions, and longevity. Herein, we present a family in which a novel variant disrupting the translation-initiation codon of the CD4 gene resulted in complete loss of membrane and plasma soluble CD4 in peripheral blood, lymph node, bone marrow, skin, and ileum of a homozygous proband. This inherited CD4 knockout disease illustrates the clinical and immunological features of a complete deficiency of any functional component of CD4 and its similarities and differences with other clinical models of primary or acquired loss of CD4+ T cells. The first inherited loss of any functional component of CD4, including soluble CD4, is clinically distinct from any other congenital or acquired CD4 T-cell defect and characterized by compensatory changes in T-cell subsets and functional impairment of B cells, monocytes, and natural killer cells.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.