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; Marcus S Shaker; Christine M Seroogy; Daniel Johnson; David E Kleiner; Lavenda Chirombo Kluczynski; Victoria L Anderson; Janine R Daub; Joanne Berghout; Andrew J Oler; Magdalena A Walkiewicz; Morgan Similuk; David B Lewis; John N Galgiani; Alexandra F Freeman; Lindsey B Rosen; Amy P Hsu; Christa S Zerbe; Steven M Holland

doi:10.1093/cid/ciaf637

IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes

Clin Infect Dis. 2025 Nov 18:ciaf637. doi: 10.1093/cid/ciaf637. Online ahead of print.

Authors

Chen Wang¹, Beatriz E Marciano¹, Annalie J Harris¹, Alicia M Johnston², Evsen Apaydin Arikan³, Diana K Bayer⁴, Benjamin D Solomon⁵, Nathan B Price⁶, Craig D Platt⁷, Arunkumar J Modi⁸, Marcus S Shaker⁹, Christine M Seroogy¹⁰, Daniel Johnson¹¹, David E Kleiner³, Lavenda Chirombo Kluczynski¹, Victoria L Anderson¹, Janine R Daub¹, Joanne Berghout¹², Andrew J Oler¹², Magdalena A Walkiewicz¹³, Morgan Similuk¹³, David B Lewis⁵, John N Galgiani¹⁴, Alexandra F Freeman¹, Lindsey B Rosen¹, Amy P Hsu¹, Christa S Zerbe¹, Steven M Holland¹

Affiliations

¹ Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
² Division of Infectious Diseases, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
³ Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
⁴ Department of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, IA, USA.
⁵ Department of Pediatrics, Division of Allergy and Immunology, Stanford University School of Medicine, Stanford, CA, USA.
⁶ Division of Infectious Diseases, Department of Pediatrics, University of Arizona, Tucson, AZ, USA.
⁷ Division of Immunology, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
⁸ Stem Cell Transplant and Cellular Therapy, AdventHealth, Orlando, FL, USA.
⁹ Department of Medicine, Geisel School of Medicine at Dartmouth; Department of Pediatrics, Geisel School of Medicine at Dartmouth; Section of Allergy and Immunology, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
¹⁰ Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
¹¹ Department of Pediatrics, Section of Pediatric Infectious Disease, University of Chicago, Chicago, IL, USA.
¹² Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
¹³ Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
¹⁴ Valley Fever Center for Excellence, and Department of Medicine, and Department of Immunobiology, College of Medicine-Tucson, and BIO5 Institute, University of Arizona, Tucson, AZ, USA.

PMID: 41248676
DOI: 10.1093/cid/ciaf637

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.

Keywords: Bordetella hinzii; Burkholderia vietnamiensis; IL12RB1; blastomycosis; coccidioidomycosis; nontuberculous mycobacteria.

Published by Oxford University Press on behalf of Infectious Diseases Society of America 2025.