Journal article
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes
Clinical infectious diseases, Vol.82(2), pp.e328-e331
02/25/2026
DOI: 10.1093/cid/ciaf637
PMCID: PMC13017731
PMID: 41248676
Abstract
IL12RB1 deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated 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 IL12RB1 deficiency in this geographic area.
Details
- Title: Subtitle
- IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes
- Creators
- Chen Wang - National Institute of Allergy and Infectious DiseasesBeatriz E Marciano - National Institute of Allergy and Infectious DiseasesAnnalie J Harris - National Institute of Allergy and Infectious DiseasesAlicia M JohnstonEvsen Apaydin Arikan - National Cancer InstituteDiana K Bayer - University of Iowa Stead Family Children’s HospitalBenjamin D Solomon - Stanford University School of MedicineNathan B Price - University of ArizonaCraig D PlattArunkumar J Modi - AdventHealth OrlandoMarcus S ShakerChristine M Seroogy - University of Wisconsin–MadisonDaniel Johnson - University of ChicagoDavid E Kleiner - National Institutes of HealthLavenda Chirombo Kluczynski - National Institute of Allergy and Infectious DiseasesVictoria L Anderson - National Institute of Allergy and Infectious DiseasesJanine R Daub - National Institute of Allergy and Infectious DiseasesJoanne Berghout - National Institute of Allergy and Infectious DiseasesAndrew J Oler - National Institute of Allergy and Infectious DiseasesMagdalena A Walkiewicz - National Institutes of HealthMorgan Similuk - National Institute of Allergy and Infectious DiseasesDavid B Lewis - Stanford University School of MedicineJohn N Galgiani - BIO5 InstituteAlexandra F Freeman - National Institute of Allergy and Infectious DiseasesLindsey B Rosen - National Institute of Allergy and Infectious DiseasesAmy P Hsu - National Institute of Allergy and Infectious DiseasesChrista S Zerbe - National Institute of Allergy and Infectious DiseasesSteven M Holland - National Institute of Allergy and Infectious Diseases
- Resource Type
- Journal article
- Publication Details
- Clinical infectious diseases, Vol.82(2), pp.e328-e331
- DOI
- 10.1093/cid/ciaf637
- PMID
- 41248676
- PMCID
- PMC13017731
- NLM abbreviation
- Clin Infect Dis
- ISSN
- 1058-4838
- eISSN
- 1537-6591
- Publisher
- Oxford University Press
- Grant note
- Intramural Research Program of the National Institutes of Health (NIH)
This research was supported in part by the Intramural Research Program of the National Institutes of Health (NIH). The contributions of the NIH author(s) were made as part of their official duties as NIH federal employees, are in compliance with agency policy requirements, and are considered Works of the United States Government. However, the findings and conclusions presented in this paper are those of the author(s) and do not necessarily reflect the views of the NIH or the US Department of Health and Human Services.
- Language
- English
- Electronic publication date
- 11/18/2025
- Date published
- 02/25/2026
- Academic Unit
- Stead Family Department of Pediatrics; Rheumatology, Allergy, and Immunology; Internal Medicine
- Record Identifier
- 9985033873302771
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