ArticleHuman genetics2020
The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?
Article in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
43 citing papers in PubMed, 71 citations in OpenAlex.
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Dermcidin has antiviral activity and protects against influenza.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome.Respiratory research · 2026Article
- Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity.Function (Oxford, England) · 2026Review
- The potential impacts of human genetics on virus emergence.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Application of Artificial Intelligence in Inborn Errors of Immunity Identification and Management: Past, Present, and Future-A Systematic Review.Journal of clinical medicine · 2025Review
- Human immunity.Journal of human immunity · 2025Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Does land cover affect the growth rate of COVID-19? Rethinking sustainable habitat from the One Health perspective using data from 12 cities during lockdown in Hubei Province, China.Frontiers in public health · 2025Article
- Insights into the genetic theory of infectious diseases.La Tunisie medicale · 2024Review
- Review
- Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.Annual review of biomedical data science · 2023Review
- Interplay between human STING genotype and bacterial NADase activity regulates inter-individual disease variability.Nature communications · 2023Article
- From second thoughts on the germ theory to a full-blown host theory.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genetic Determinants of the Acute Respiratory Distress Syndrome.Journal of clinical medicine · 2023Review
- Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.Science immunology · 2023Article
- Article
- Gene-environment interactions in birth defect etiology: Challenges and opportunities.Current topics in developmental biology · 2023Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
Abstract
Multicellular eukaryotes emerged late in evolution from an ocean of viruses, bacteria, archaea, and unicellular eukaryotes. These macroorganisms are exposed to and infected by a tremendous diversity of microorganisms. Those that are large enough can even be infected by multicellular fungi and parasites. Each interaction is unique, if only because it operates between two unique living organisms, in an infinite diversity of circumstances. This is neatly illustrated by the extraordinarily high level of interindividual clinical variability in human infections, even for a given pathogen, ranging from a total absence of clinical manifestations to death. We discuss here the idea that the determinism of human life-threatening infectious diseases can be governed by single-gene inborn errors of immunity, which are rarely Mendelian and frequently display incomplete penetrance. We briefly review the evidence in support of this notion obtained over the last two decades, referring to a number of focused and thorough reviews published by eminent colleagues in this issue of Human Genetics. It seems that almost any life-threatening infectious disease can be driven by at least one, and, perhaps, a great many diverse monogenic inborn errors, which may nonetheless be immunologically related. While the proportions of monogenic cases remain unknown, a picture in which genetic heterogeneity is combined with physiological homogeneity is emerging from these studies. A preliminary sketch of the human genetic architecture of severe infectious diseases is perhaps in sight.
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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.