Evidence map›Paper›PMID 41248676›Full record

ArticleClinical infectious diseases : an official publication of the Infectious Diseases Society of America2026

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes.

Chen Wang, Beatriz E Marciano, Annalie J Harris, Alicia M Johnston, Evsen Apaydin Arikan, Diana K Bayer, Benjamin D Solomon, Nathan B Price, Craig D Platt, Arunkumar J Modi and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

28 authors.

Chen WangImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-4055-7391
Beatriz E MarcianoImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Annalie J HarrisImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0009-0007-8231-8002
Alicia M JohnstonDivision of Infectious Diseases, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0009-0000-7118-3906
Evsen Apaydin ArikanLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-4976-8710
Diana K BayerDepartment of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.ORCID 0000-0001-7181-7446
Benjamin D SolomonDepartment of Pediatrics, Division of Allergy and Immunology, Stanford University School of Medicine, Stanford, California, USA.ORCID 0000-0003-1009-7312
Nathan B PriceDivision of Infectious Diseases, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA.ORCID 0000-0001-5062-0871
Craig D PlattDepartment of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Arunkumar J ModiStem Cell Transplant and Cellular Therapy, AdventHealth, Orlando, Florida, USA.ORCID 0000-0002-9323-8979
Marcus S ShakerDepartment of Medicine, Geisel School of Medicine at Dartmouth, Lebanon, New Hampshire, USA.
Christine M SeroogyDepartment of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.ORCID 0000-0002-0532-3701
Daniel JohnsonDepartment of Pediatrics, Section of Pediatric Infectious Disease, University of Chicago, Chicago, Illinois, USA.ORCID 0000-0001-9479-2229
David E KleinerLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Lavenda Chirombo KluczynskiImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Victoria L AndersonImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Janine R DaubImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Joanne BerghoutBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-9250-9159
Andrew J OlerBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-6310-0434
Magdalena A WalkiewiczCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Morgan SimilukCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-0403-2689
David B LewisDepartment of Pediatrics, Division of Allergy and Immunology, Stanford University School of Medicine, Stanford, California, USA.
John N GalgianiValley Fever Center for Excellence, University of Arizona, Tucson, Arizona, USA.ORCID 0000-0002-7882-1883
Alexandra F FreemanImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Lindsey B RosenImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0001-5894-3878
Amy P HsuImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Christa S ZerbeImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Steven M HollandImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-3207-5464

Funding

Intramural Research ProgramNIH HHSUS Department of Health and Human Services
6 · The paper itself

Abstract

Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated Bacillus Calmette-Guérin (BCG) infection. In North America, however, where BCG is not used, it manifests with other bacterial or fungal infections, highlighting distinct, sometimes unrecognized, presentations of IL-12Rβ1 deficiency in this geographic area.

Indexed as

blastomycosisBordetella hinziiBurkholderia vietnamiensiscoccidioidomycosisIL-12Rβ1

Identifiers

PMID41248676
PMCPMC13017731

What OpenQuestion holds

Textmetadata
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.