Pérez-Aguilar Mary Carmen, Goncalves Loredana, Bonfante-Cabarcas Rafael
Laboratorio de Inmunología de Parasitosis (LABINPAR), Facultad de Ciencias, Universidad de los Andes, Mérida, Venezuela.
Invest Clin. 2012 Sep;53(3):315-24.
Adenosine deaminase is an enzyme of the purine metabolism whose function is to convert adenosine to inosine and deoxyadenosine to deoxyinosine. The ecto-ADA1 binding to the cell surface through CD26 contributes to the regulation of cytokines and stimulates the proliferation of T cells by activating CD45. The deficiency of this enzyme generates the severe combined immunodeficiency syndrome, characterized by the accumulation of deoxyadenosine and adenine metabolites, which have toxic effects on lymphocytes, affecting DNA synthesis and consequently, clonal expansion. Early diagnosis of this immunodeficiency is essential, as it significantly reduces morbidity and mortality associated with recurrent infections. Recent advances in molecular biology and genetics have led to the identification of genetic defects of many primary immunodeficiencies and the development of promising diagnostic tools and treatment.
腺苷脱氨酶是嘌呤代谢中的一种酶，其功能是将腺苷转化为肌苷，将脱氧腺苷转化为脱氧肌苷。通过CD26与细胞表面结合的胞外ADA1有助于细胞因子的调节，并通过激活CD45刺激T细胞增殖。这种酶的缺乏会导致严重联合免疫缺陷综合征，其特征是脱氧腺苷和腺嘌呤代谢产物的积累，这些代谢产物对淋巴细胞有毒性作用，影响DNA合成，进而影响克隆扩增。早期诊断这种免疫缺陷至关重要，因为它能显著降低与反复感染相关的发病率和死亡率。分子生物学和遗传学的最新进展已导致许多原发性免疫缺陷的遗传缺陷被识别，以及有前景的诊断工具和治疗方法的开发。
