Hoyos Bachiloglu Rodrigo, Sotomayor F Cristian, Poli H Cecilia
Departamento de Enfermedades Infecciosas e Inmunología Pediátrica, Pontificia Universidad Católica de Chile, Chile.
Comité de Inmunodeficiencias Primarias, Programa Infantil Nacional de Drogas Antineoplásicas, Chile.
Rev Chil Pediatr. 2019 Dec;90(6):581-588. doi: 10.32641/rchped.v90i6.1310.
Primary immunodeficiencies (PIDs) are a set of about 350 genetic disorders that affect the normal function of the immune system. Advances in genetic diagnosis have allowed the description of new defects in the immune system, broadening the clinical spectrum of PIDs' manifestations beyond susceptibility to infection. Although most PIDs present with recurrent or opportunistic infections, a subgroup of them may be recognized by the early development of auto-inflammatory events, tumors and, paradoxically, the coexistence of autoimmunity and immunodeficiency in the same patient. As their clinical manifestations, the severity of PIDs is highly variable. Severe combined immunodefi ciency (SCID), a PID that affects cellular and humoral immunity, is one of the most severe forms of PIDs and the only available curative treatment in Latin America is hematopoietic stem cells trans plantation. All patients affected by SCID die during the first two years of life if they are not diagnosed and treated opportunely. In contrast, early transplantation of patients with SCID can lead to excellent survival outcomes. Despite recent advances in the diagnosis of PIDs in Chile, diagnostic resources are not available throughout the country, making the early diagnosis of SCID and other forms of PID difficult in big areas of Chile. The objective of this article is to review general concepts on the patho physiology, diagnosis, and initial management of SCID and raise the need for the implementation of neonatal screening for SCID in Chile.
原发性免疫缺陷病（PIDs）是一组约350种影响免疫系统正常功能的遗传性疾病。基因诊断技术的进步使得人们能够描述免疫系统中的新缺陷，从而拓宽了原发性免疫缺陷病临床表现的临床谱，使其不仅仅局限于易感染性。尽管大多数原发性免疫缺陷病表现为反复感染或机会性感染，但其中一部分可能表现为自身炎症性疾病、肿瘤的早期发生，而且同一患者中自身免疫和免疫缺陷并存的情况也较为常见。就临床表现而言，原发性免疫缺陷病的严重程度差异很大。严重联合免疫缺陷病（SCID）是一种影响细胞免疫和体液免疫的原发性免疫缺陷病，是最严重的原发性免疫缺陷病形式之一，在拉丁美洲唯一可用的治愈性治疗方法是造血干细胞移植。所有患有严重联合免疫缺陷病的患者如果不及时诊断和治疗，都会在生命的头两年内死亡。相比之下，严重联合免疫缺陷病患者早期进行移植可获得良好的生存结果。尽管智利在原发性免疫缺陷病的诊断方面取得了最新进展，但全国并非都能获得诊断资源，这使得在智利的大片地区很难对严重联合免疫缺陷病和其他形式的原发性免疫缺陷病进行早期诊断。本文的目的是回顾严重联合免疫缺陷病的病理生理学、诊断和初始管理的一般概念，并提出在智利实施严重联合免疫缺陷病新生儿筛查的必要性。
