Evidence map›Paper›PMID 39724971›Full record

ReviewThe Journal of allergy and clinical immunology2025

The monogenic landscape of human infectious diseases.

Stéphanie Boisson-Dupuis, Paul Bastard, Vivien Béziat, Jacinta Bustamante, Aurélie Cobat, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen-Ying Zhang and 1 more

Abstract readReview
In one paragraph

Review in The Journal of allergy and clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
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

11 authors.

Stéphanie Boisson-DupuisSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Paul BastardSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
Vivien BéziatSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Jacinta BustamanteSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
Aurélie CobatSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Emmanuelle JouanguySt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Anne PuelSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Jérémie RosainSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
Qian ZhangSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Shen-Ying ZhangSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
Bertrand BoissonSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France. Electronic address: bebo283@rockefeller.edu.

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Pharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI CASANOVA, JEAN-LAURENT · 2021 to 2025
$13.0M
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 · 2017 to 2026
$4.8M
Inborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5M
Molecular and cellular basis of epidermodysplasia verruciformisR01AI143810 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, JOUANGUY, EMMANUELLE · 2020 to 2024
$2.0M
snoRNA31 is critical for human cell-intrinsic immunity to HSV-1 in the central nervous systemR21AI151663 · NIAID · ROCKEFELLER UNIVERSITY · PI ZHANG, SHEN-YING · 2020 to 2021
$466k
Autosomal dominant OTULIN deficiency and staphylococcal diseaseR21AI159728 · NIAID · ROCKEFELLER UNIVERSITY · PI BOISSON, BERTRAND, SPAAN, ANDRAS NIKO · 2022 to 2023
$466k
NCATS NIH HHS UL1 TR001866NCIPC CDC HHS U17 CE001236NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI127564NIAID NIH HHS R01 AI143810NIAID NIH HHS R01 AI163029NIAID NIH HHS R21 AI151663NIAID NIH HHS R21 AI159728NIAID NIH HHS U19 AI162568NINDS NIH HHS R01 NS072381
6 · The paper itself

Abstract

The spectrum of known monogenic inborn errors of immunity is growing, with certain disorders underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.

Indexed as

Communicable DiseasesImmunologic Deficiency SyndromesAnimalsHumansinborn errors of immunityinfectionsMendelian and monogenic infectionsprotection against common pathogens

Identifiers

PMID39724971
PMCPMC11875930

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

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 Socratic graph.