Evidence map›Paper›PMID 32289233›Full record

ReviewAnnual review of pathology2021

Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.

Jean-Laurent Casanova, Laurent Abel

Open access · bronzeAbstract readReview
In one paragraph

Review in Annual review of pathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed, 2 pooled it
6.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 126 citations in OpenAlex.

  1. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Pooled it
  2. Antibacterial action mechanisms and mode of trypsin inhibitors: a systematic review.Journal of enzyme inhibition and medicinal chemistry · 2022
    Pooled it
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025
    Review
  14. Antiviral immunity lassoed down by excess RNA.The Journal of experimental medicine · 2025
    Article
  15. Article
  16. Review
  17. The Microbe, the Infection Enigma, and the Host.Annual review of microbiology · 2024
    Review
  18. Review
  19. Article
  20. Review

14 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 2 countries.

Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; email: casanova@rockefeller.edu.
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; email: casanova@rockefeller.edu.
Inserm · FR

Funding

Viable but Nonculturable MtbU19AI111143 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI FITZGERALD, DANIEL W, GLICKMAN, MICHAEL S · 2014 to 2020
$48.6M
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2004 to 2021
$29.8M
Study of the Cellular Basis of Herpes Simplex Encephalitis with hPSC-Derived CNS and PNS CellsR01NS072381 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$10.2M
Monogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7M
Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Anne Puel · 2017 to 2026
$4.8M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6M
Inherited IRF9 deficiency: a novel genetic etiology of severe influenzaR21AI137371 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2018 to 2019
$466k
NCATS NIH HHS UL1 TR001866NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI127564NIAID NIH HHS R21 AI137371NIAID NIH HHS R37 AI095983NIAID NIH HHS U19 AI111143NINDS NIH HHS R01 NS072381
6 · The paper itself

Abstract

It was first demonstrated in the late nineteenth century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial constitution. A new enigma emerged at the turn of the twentieth century, when it became apparent that only a small proportion of infected individuals die from primary infections with almost any given microbe. Classical genetics studies gradually revealed that severe infectious diseases could be driven by human genetic predisposition. This idea gained ground with the support of molecular genetics, in three successive, overlapping steps. First, many rare inborn errors of immunity were shown, from 1985 onward, to underlie multiple, recurrent infections with Mendelian inheritance. Second, a handful of rare and familial infections, also segregating as Mendelian traits but striking humans resistant to other infections, were deciphered molecularly beginning in 1996. Third, from 2007 onward, a growing number of rare or common sporadicinfections were shown to result from monogenic, but not Mendelian, inborn errors. A synthesis of the hitherto mutually exclusive germ and genetic theories is now in view.

Indexed as

Germ Theory of DiseasePrimary Immunodeficiency DiseasesCommunicable DiseasesGenetic Predisposition to DiseaseHumansInfectionshuman genetics of infectious diseasesinborn error of immunityMendelian infectionmonogenic infectionprimary immunodeficiency

Identifiers

PMID32289233
PMCPMC7923385
OpenAlexW3015507975

What OpenQuestion holds

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Registered trials

None linked

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.