2006
DOI: 10.1016/j.smim.2006.07.010
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Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features

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Cited by 416 publications
(246 citation statements)
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“…Our data provide evidence for an essential role of a protective IL-23/IL-22 axis in a Th1-compromised state that may be relevant for patients with an inherited defect in the IL-12/IL-12R/IFN-␥ pathway suffering from recurrent infections (reviewed in Ref. 7). (60).…”
mentioning
confidence: 72%
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“…Our data provide evidence for an essential role of a protective IL-23/IL-22 axis in a Th1-compromised state that may be relevant for patients with an inherited defect in the IL-12/IL-12R/IFN-␥ pathway suffering from recurrent infections (reviewed in Ref. 7). (60).…”
mentioning
confidence: 72%
“…application of a high sublethal infective dose of this attenuated S. Enteritidis strain (i.e., 2.5 ϫ 10 6 CFU for WT C57BL/6 mice) and of a low sublethal infective dose (i.e., 2.5 ϫ 10 3 CFU for IL-12-deficient C57BL/6 mice), either mouse strain survives and does not develop a typhoid-like disease. These two different experimental models are suitable for studies comparing immunoregulatory mechanisms in the presence and particularly in the absence of IL-12, as is the case in human patients with IL-12/ IL-23 defects leading to recurrent salmonellosis (7). IL-12 produced by Salmonella-infected dendritic cells and macrophages is the key cytokine for Th1 cell development.…”
mentioning
confidence: 99%
“…In addition, activating receptors that transmit signals through ITAMs have the ability to induce IFN-g production (7). IFN-g in turn promotes the activation of macrophages (8), shapes the innate and adaptive immune responses (9), and suppresses the proliferation of tumor and virus-infected cells (10). Freshly isolated NK cells from humans and mice have only minimal cytotoxicity and secrete a low level of IFN-g (11).…”
mentioning
confidence: 99%
“…With the exception of CYBB, MSMDcausing genes encode molecules involved in the IL-12-IFNγcircuit (33). These rare disorders have been diagnosed in over 220 patients from over 43 countries worldwide with inborn errors of the IL-12/23-IFN-gamma circuit (34).…”
Section: Mendelian Susceptibility To Mycobacterial Diseases (Msmd)mentioning
confidence: 99%