Clinical review uncovers diverse bacterial and fungal infections in North American patients with IL-12Rβ1 deficiency, highlighting distinct disease phenotypes in non-BCG-vaccinated regions.
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.
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Wang et al. (2025) studied this question.
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