Evidence map›Paper›PMID 30264912›Full record

ReviewImmunology and cell biology2019

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Jérémie Rosain, Xiao-Fei Kong, Ruben Martinez-Barricarte, Carmen Oleaga-Quintas, Noé Ramirez-Alejo, Janet Markle, Satoshi Okada, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante

Abstract readReview
In one paragraph

Review in Immunology and cell biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed, 2 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

116 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Microbiology spectrum · 2026
    Article
  4. Article
  5. Review
  6. Article
  7. Article
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  10. Review
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  13. Review
  14. Article
  15. Inducible antibacterial responses in macrophages.Nature reviews. Immunology · 2025
    Review
  16. Article
  17. Article
  18. Article
  19. Interferon Alpha Therapy in MSMD.Journal of clinical immunology · 2024
    Article
  20. Article

56 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

10 authors.

Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.
Xiao-Fei KongSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Ruben Martinez-BarricarteSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Carmen Oleaga-QuintasLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.
Noé Ramirez-AlejoSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Janet MarkleSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Satoshi OkadaSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.

Funding

Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6M
Howard Hughes Medical InstituteNIAID NIH HHS R37 AI095983
6 · The paper itself

Abstract

Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. Since 1996, disease-causing mutations have been found in 11 genes, which, through allelic heterogeneity, underlie 21 different genetic disorders. We briefly review here progress in the study of molecular, cellular and clinical aspects of MSMD since the last comprehensive review published in 2014. Highlights include the discoveries of (1) a new genetic etiology, autosomal recessive signal peptide peptidase-like 2 A deficiency, (2) TYK2-deficient patients with a clinical phenotype of MSMD, (3) an allelic form of partial recessive IFN-γR2 deficiency, and (4) two forms of syndromic MSMD: RORγ/RORγT and JAK1 deficiencies. These recent findings illustrate how genetic and immunological studies of MSMD can shed a unique light onto the mechanisms of protective immunity to mycobacteria in humans.

Indexed as

Genetic Predisposition to DiseaseAllelesGenetic LociGeographyHumansMutationMycobacterium InfectionsIFN-γmycobacteriumnext-generation sequencingprimary immunodeficiency

Identifiers

PMID30264912
PMCPMC6438774

What OpenQuestion 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 OpenQuestion graph.