The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe susceptibility to mycobacteria and are very difficult to treat. Mutations in IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
タイトル
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
