What to Look for When Severe Intracellular Infections Can’t Be Explained

Severe infections with intracellular organisms can be a red flag for a compromised immune system. Interleukin 12 receptor β1 (IL-12Rβ1) deficiency — the most common cause of genetic susceptibility to mycobacterial disease — is typically diagnosed in countries where bacillus Calmette-Guérin (BCG) vaccination leads to disseminated mycobacterial infection. In North America, where BCG vaccination is not routinely given, the contribution of IL-12Rβ1 deficiency to the presentation of infectious diseases is unclear.

To learn more, investigators evaluated records on 14 patients from 12 kindreds across the United States and Canada who were diagnosed with IL-12Rβ1 deficiency (median age at first presentation, 6 years).