一名复发性肺炎球菌感染患者的 IRAK4 缺陷：病例报告及文献综述
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.
作者信息
Gobin Karina, Hintermeyer Mary, Boisson Bertrand, Chrabieh Maya, Ghandil Pegah, Puel Anne, Picard Capucine, Casanova Jean-Laurent, Routes John, Verbsky James
机构信息
Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France.
出版信息
Front Pediatr. 2017 Apr 28;5:83. doi: 10.3389/fped.2017.00083. eCollection 2017.
Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors. We highlight the complexities in diagnosis of these disorders and review genetic defects of the NF-κB pathway.
原发性免疫缺陷是先天性或适应性免疫系统的遗传缺陷，导致易感染倾向。先天性免疫系统是抵御病原体的第一道防线，对于识别微生物并启动炎症级联反应至关重要。微生物的感知通过多种病原体识别受体发生，导致炎症信号转导通路的激活，如NF-κB的激活。在此，我们描述了一例IRAK4缺陷病例，IRAK4是Toll样受体和IL-1受体的关键信号转导分子。我们强调了这些疾病诊断中的复杂性，并综述了NF-κB通路的遗传缺陷。
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