Different Penetrance Of Disseminated Infections Caused By Nontuberculous Mycobacteria In Mendelian Susceptibility To Mycobacterial Disease Associated With A Novel Mutation

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Deficiency in the interleukin12/INFgamma pathway is a genetic condition that predisposes to some infections, including nontuberculous mycobacteria infection and extraintestinal salmonellosis. We report 2 cases in sisters who were diagnosed with a genetic defect caused by a new mutation in Interleukin-12 receptor β1 chain (IL12Rβ1) leading to different clinical presentations and responses to therapy.

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