<i>IL12RB1</i> Deficiency Appearing in North America: Expanding the Clinical Phenotypes
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.
Authors
- Amy P. Hsu (ORCID: https://orcid.org/0000-0001-6841-2122)
- Lavenda Chirombo Kluczynski
- Andrew J. Oler (ORCID: https://orcid.org/0000-0002-6310-0434)
- Annalie J Harris (ORCID: https://orcid.org/0009-0007-8231-8002)
- David E. Kleiner (ORCID: https://orcid.org/0000-0003-3442-4453)
- Diana K. Bayer (ORCID: https://orcid.org/0000-0001-7181-7446)
- Alicia Johnston (ORCID: https://orcid.org/0009-0000-7118-3906)
- Joanne Berghout (ORCID: https://orcid.org/0000-0002-9250-9159)
- Evşen Apaydın Arıkan (ORCID: https://orcid.org/0000-0002-4976-8710)
- Christine M. Seroogy (ORCID: https://orcid.org/0000-0002-0532-3701)
- Benjamin D. Solomon (ORCID: https://orcid.org/0000-0003-1009-7312)
- Craig D. Platt (ORCID: https://orcid.org/0000-0002-1901-4563)
- Chen Wang (ORCID: https://orcid.org/0000-0003-4055-7391)
- Victoria Anderson
- Steven M. Holland (ORCID: https://orcid.org/0000-0003-3207-5464)
- Lindsey B. Rosen (ORCID: https://orcid.org/0000-0001-5894-3878)
- Alexandra F. Freeman (ORCID: https://orcid.org/0000-0001-7005-8345)
- Magdalena Walkiewicz
- Daniel Johnson (ORCID: https://orcid.org/0000-0001-9479-2229)
- Morgan N. Similuk (ORCID: https://orcid.org/0000-0002-0403-2689)
- Christa S. Zerbe (ORCID: https://orcid.org/0000-0003-4219-0503)
- Beatriz E. Marciano
- Arunkumar Modi (ORCID: https://orcid.org/0000-0002-9323-8979)
- Nathan Price (ORCID: https://orcid.org/0000-0001-5062-0871)
- David B. Lewis (ORCID: https://orcid.org/0000-0001-7181-0105)
- Jennifer Daub (ORCID: https://orcid.org/0000-0001-6022-563X)
- John N. Galgiani (ORCID: https://orcid.org/0000-0002-7882-1883)
- Marcus Shaker
Institutions
- Dartmouth College (US)
- Boston Children's Hospital (US)
- Dartmouth–Hitchcock Medical Center (US)
- National Institutes of Health (US)
- University of Wisconsin–Madison (US)
- Harvard University (US)
- University of Arizona (US)
- AdventHealth Orlando (US)
- AdventHealth East Orlando (US)
- University of Illinois Chicago (US)
- University of Chicago (US)
- University of Iowa Stead Family Children’s Hospital (US)
- Dartmouth Psychiatric Research Center (US)
- National Institute of Allergy and Infectious Diseases (US)
- National Cancer Institute (US)
- Boston Children's Museum (US)
- BIO5 Institute
- Stanford University (US)
Publication Details
- Journal
- Clinical Infectious Diseases
- Published
- 2025-11-15
- DOI
- https://doi.org/10.1093/cid/ciaf637
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00