Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
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
Published: 202510.1093/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 f…
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