Evidence map›Paper›PMID 33598806›Full record

ReviewJournal of clinical immunology2021

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard and 8 more

Abstract readReview
In one paragraph

Review in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 3 pooled it
–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

109 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Guideline
  2. Pooled it
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  17. Novel Genetic and Phenotypic Expansion in AmelioratedInternational journal of molecular sciences · 2024
    Article
  18. Article
  19. Observational
  20. Article

49 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

18 authors.

Stuart G TangyeGarvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, 2010, Australia. s.tangye@garvan.org.au.ORCID 0000-0002-5360-5180
Waleed Al-HerzDepartment of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Aziz BousfihaLaboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Charlotte Cunningham-RundlesDepartments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Jose Luis FrancoGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Steven M HollandLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Christoph KleinDr von Hauner Childrens Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Eric OksenhendlerDepartment of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
Capucine PicardStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France.
Anne PuelLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, 75015, Paris, France.
Jennifer PuckDepartment of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
Mikko R J SeppänenAdult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Childrens Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Raz SomechPediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel.
Helen C SuLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Kathleen E SullivanDivision of Allergy Immunology, Department of Pediatrics, Childrens Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Troy R TorgersonAllen Institute for Immunology, Seattle, WA, USA.
Isabelle MeytsDepartment of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000, Leuven, Belgium.

Funding

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
Defining New Human Immunodeficiency and Immunodysregulation DisordersZIAAI001059 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$20.5M
Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)U24AI086037 · NIAID · IMMUNE DEFICIENCY FOUNDATION · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2010 to 2019
$6.5M
NIAID NIH HHS P01 AI061093
6 · The paper itself

Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

Indexed as

Genetic Predisposition to DiseaseAllelesCOVID-19Diagnosis, DifferentialDisease ManagementGenetic Association StudiesGenotypeHumansImmunityInheritance PatternsPhenotypePrimary Immunodeficiency DiseasesPublic Health SurveillanceRisk Factorsautoinflammatory disordersimmune dysregulationInborn errors of immunityprimary immunodeficiencies

Identifiers

PMID33598806
PMCPMC7889474

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.