Toll样受体(TLRs)是先天免疫系统的传感器,可以检测来自病原体(病原体相关分子模式- PAMP)或受损细胞(损伤相关分子模式- DAMP)的危险信号(Pasare C和Medzhitov R 2005;Barton GM和Kagan JC 2009;Kawai T和Akira S 2010)。这些传感器的信号传导促进了转录因子(IRFs, NFkB和AP1)的激活和核转位。转录因子诱导炎性细胞因子如IL-6、TNF和il - 1 β的分泌,从而指导适应性免疫反应。tlr介导过程的遗传或获得性异常可能导致感染、过度炎症、自身免疫和恶性肿瘤易感性增加(Picard C et al. 2010;Netea MG et al. 2012;Varettoni M et al. 2013)。在这里,我们描述了四种与tlr介导的缺陷反应相关的原发性免疫缺陷(PID)疾病。首先,MyD88或IRAK4缺乏症患者对化脓性细菌更敏感(Picard C et al. 2003; von Bernuth H et al. 2008). Second, defects in the TLR3 signaling pathway are associated with a greater susceptibility to herpes simplex virus encephalitis (Zhang SY et al. 2013). Third, imunodeficiencies due to defects in NFkB signaling components are linked to impaired TLR-mediated responses (Courtois G et al. 2003; Fusco F et al. 2004). Finally, events are annotated showing constitutive activation of a somatically mutated MyD88 gene which results in malignancy (Varettoni M et al. 2013).