IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes.
case_series · Level IV
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- Record sourced from PubMed, PMID 41248676.
- Also identified by DOI 10.1093/cid/ciaf637 and PMC identifier 13017731.
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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.