Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity.
Susceptibility to mycobacterial infection has long been associated with defects in T cell immunity, such as those conferred by HIV infection or iatrogenic immune suppression. However, despite these well-recognized predispositions to clinical disease with tuberculosis and nontuberculous mycobacteria, the genetic disorders that are relatively specific for mycobacterial infection with nontuberculous bacteria and bacille Calmette Guerin (BCG) involve the innate immune pathways, and all engage interferon gamma and IL-12 production, signaling, and availability.
Holland
Steven M
SM
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3-4141 MSC 1684, Bethesda, MD 20892-1684, USA. smh@nih.gov
D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics; D007113:Immunity, Innate / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007371:Interferon-gamma / Q000172:deficiency*; D018664:Interleukin-12 / Q000172:deficiency* / Q000235:genetics; D009164:Mycobacterium Infections / Q000276:immunology*; D017471:Receptors, Interferon / Q000235:genetics; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics; D050794:STAT1 Transcription Factor / Q000172:deficiency* / Q000235:genetics; D000096743:Interferon gamma Receptor
D007371:Interferon-gamma; D018664:Interleukin-12; D017471:Receptors, Interferon; D053707:Receptors, Interleukin-12; D050794:STAT1 Transcription Factor; D000096743:Interferon gamma Receptor