Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil.
J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S34-S38. doi: 10.1016/j.jped.2020.10.007. Epub 2020 Nov 8.
To draw physicians' attention to the different warning signs of diseases of inborn errors of immunity.
A non-systematic review of the literature was carried out in the PubMed, LILACS, and SciELO databases, in addition to consultation of reference textbooks.
It is known that the lack of immunological competence observed in patients with inborn errors of immunity diseases causes particularly serious and/or recurrent infections. However, manifestations related to autoimmunity, inflammation, allergies, and malignancy can also occur. Aiming at the early identification of these patients, a list of warning signs for inborn errors of immunity was created, in which the need for intravenous antibiotics or prolonged antibiotics use to control infection, failure to thrive, and positive family history for this group of diseases are considered the most sensitive. Regarding non-infectious manifestations, early onset, difficulty in controlling with the usual treatments, atypical presentations or association with other warning signs are noteworthy, and investigation for inborn errors of immunity in these situations is recommended.
This article highlights the importance of considering this group of diseases even in the face of patients with non-infectious manifestations. Disclosure of inborn errors of immunity diseases, especially to non-specialists, is essential for early diagnosis and, consequently, for the reduction of these patients' morbidity and mortality.
引起医生对遗传性免疫缺陷病不同警示信号的关注。
在 PubMed、LILACS 和 SciELO 数据库中进行了非系统性文献回顾,并查阅了参考书。
众所周知,遗传性免疫缺陷病患者观察到的免疫能力缺乏会导致特别严重和/或反复感染。然而,也可能出现与自身免疫、炎症、过敏和恶性肿瘤相关的表现。为了早期识别这些患者,列出了遗传性免疫缺陷病的警示信号清单,其中静脉内使用抗生素或长期使用抗生素来控制感染、生长不良以及该疾病家族史阳性被认为是最敏感的。关于非传染性表现,需要注意早期发病、通常治疗难以控制、不典型表现或与其他警示信号相关,建议在这些情况下对遗传性免疫缺陷病进行调查。
本文强调了即使面对非传染性表现的患者,也要考虑这组疾病的重要性。遗传性免疫缺陷病的披露,尤其是对非专家的披露,对于早期诊断至关重要,从而降低这些患者的发病率和死亡率。