title: [Disorders of interferon-gamma activation pathways: new group of primary immune deficiency diseases].
abstract: Protective immunity to intracellular bacteria such as mycobacteria and salmonella depends on intact cell-mediated immunity. Major effector mechanisms of cell-mediated immunity involve activation of macrophages by T helper-1 cytokines, particularly interferon-gamma. Patients with genetic deficiency of T helper-1 cytokines (IFN-gamma, IL-12) or T helper-1 cytokine receptors (IFN-gamma receptor, IL-12 receptor) are susceptible to infections with poorly pathogenic mycobacteria, and salmonella, suggesting that T helper-1 cytokines are essential in host defense against these pathogens. This review reports on the genetic and clinical characteristics of primary deficiencies of interferon-gamma activation pathways.
authors.affiliation: Debreceni Egyetem Orvos- és Egészségtudományi Centrum, Infektológiai és Gyermekimmunológiai Tanszék.
authors.forename: M
authors.initials: M
authors.lastname: Erdös
authors.forename: L
authors.initials: L
authors.lastname: Maródi
mesh_terms: D006801:Humans; D007371:Interferon-gamma / Q000276:immunology / Q000378:metabolism*; D018664:Interleukin-12 / Q000378:metabolism; D008264:Macrophages / Q000378:metabolism; D017471:Receptors, Interferon / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D018123:Receptors, Interleukin / Q000378:metabolism; D053707:Receptors, Interleukin-12; D015398:Signal Transduction / Q000276:immunology*; D014960:X Chromosome / Q000235:genetics
chemical_list: D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D018664:Interleukin-12; D007371:Interferon-gamma
vernacular_title: Az interferon-gamma aktivációs utak defektusai: a primer immunhiányos betegségek új csoportja.