Martínez Jaramillo Catalina, Trujillo-Vargas Claudia M
Grupo de Inmunodeficiencias primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellín, Colombia.
Colomb Med (Cali). 2018 Sep 30;49(3):236-243. doi: 10.25100/cm.v49i2.3802.
Bi-allelic mutations in (from ) result in a primary immunodeficiency with clinical features ranging from hypogammaglobulinemia and lymphoproliferative syndrome to inflammatory bowel disease and heterogeneous autoimmune manifestations. LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several molecules and processes that play key roles for immunity. In this review, we will discuss the relationship of LRBA with the endovesicular system in the context of receptor trafficking, autophagy and apoptosis. Since these mechanisms of homeostasis are inherent to all living cells and not only limited to the immune system and also, because they are involved in physiological as well as pathological processes such as embryogenesis or tumoral transformation, we envisage advancing in the identification of potential pharmacological agents to manipulate these processes.
（来自……的）双等位基因突变导致一种原发性免疫缺陷，其临床特征从低丙种球蛋白血症和淋巴增殖综合征到炎症性肠病及多种自身免疫表现不等。已表明LRBA缺陷会影响囊泡运输、自噬和凋亡，这可能导致对免疫起关键作用的几种分子和过程发生改变。在本综述中，我们将在受体运输、自噬和凋亡的背景下讨论LRBA与内囊泡系统的关系。由于这些稳态机制是所有活细胞所固有的，不仅限于免疫系统，而且还因为它们参与诸如胚胎发生或肿瘤转化等生理以及病理过程，我们设想在鉴定用于操纵这些过程的潜在药物方面取得进展。
