Analysis reveals diverse clinical phenotypes of IL12RB1 deficiency, suggesting novel implications for understanding bacterial infections.
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.
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Wang et al. (2025) studied this question.
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