IFN-gamma/IL-12 axis; Mendelian susceptibility to mycobacterial disease (MSMD)
Supergrp
Disorders of innate immunity [DS:H02525] Primary immunodeficiency disease [DS:H01725]
Description
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.
Category
Primary immunodeficiency
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A00 Primary immunodeficiencies due to disorders of innate immunity
H00089 IFN-gamma/IL-12 axis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H00089 IFN-gamma/IL-12 axis
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
Title
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
