[From gene to disease; mutations in interleukin-12-receptor-beta 1- and interferon-gamma-receptor-1 lead to nontuberculous mycobacterial infections and salmonellosis].
In patients with severe and relapsing infections with non-tuberculous mycobacteria and Salmonella autosomal recessive as well as dominant-negative mutations are shown in genes for receptors of type-1 cytokines: the IL-12 receptor and the IFN-gamma receptor. In case of an impaired capacity to produce these cytokines or--given an abnormal receptor--to react to them, the cellular immune reaction does not run a normal course and the susceptibility to infection by intracellular pathogens is enhanced.
van Dissel
J T
JT
Afd. Infectieziekten, Leids Universitair Medisch Centrum, Leiden.
Ottenhoff
T H
TH
D007108:Immune Tolerance / Q000235:genetics; D007111:Immunity, Cellular / Q000235:genetics*; D007371:Interferon-gamma / Q000235:genetics; D018664:Interleukin-12 / Q000235:genetics; D009154:Mutation; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics*; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics*; D053707:Receptors, Interleukin-12; D012008:Recurrence; D012480:Salmonella Infections / Q000235:genetics* / Q000276:immunology; D000096743:Interferon gamma Receptor
D007371:Interferon-gamma; D018664:Interleukin-12; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D000096743:Interferon gamma Receptor