Universidade Federal do Rio de Janeiro (UFRJ), Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil; Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Curso de Especialização em Alergia e Imunologia Clínica, Rio de Janeiro, RJ, Brazil.
Universidade Federal de Uberlândia (UFU), Faculdade de Medicina, Departamento de Pediatria, Uberlândia, MG, Brazil; Universidade Federal de Uberlândia (UFU), Hospital das Clínicas, Programa de Residência Médica em Alergia e Imunologia Pediátrica, Uberlândia, MG, Brazil.
J Pediatr (Rio J). 2019 Mar-Apr;95 Suppl 1:49-58. doi: 10.1016/j.jped.2018.11.006. Epub 2018 Dec 26.
This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can help in their treatment.
Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms "growth", "growth disorders", "failure to thrive", or "short stature" AND "immunologic deficiency syndromes", "immune deficiency disease", or "immune deficiency" NOT HIV. The Online Mendelian Inheritance in Man (OMIN) database was searched for immunodeficiencies and short stature or failure to thrive.
Inborn errors of immunity can affect growth in different ways, and some of them can change growth through multiple simultaneous mechanisms: genetic syndromes; disorders of the osteoarticular system; disorders of the endocrine system; reduction in caloric intake; catabolic processes; loss of nutrients; and inflammatory and/or infectious conditions.
The type of inborn errors of immunity allows anticipating what type of growth disorder can be expected. The type of growth disorder can help in the diagnosis of clinical conditions related to inborn errors of immunity. In many inborn errors of immunity, the causes of poor growth are mixed, involving more than one factor. In many cases, impaired growth can be adjusted with proper inborn errors of immunity treatment or proper approach to the mechanism of growth impairment.
本研究旨在回顾不同先天性免疫缺陷对生长的影响的文献，提请关注在生长障碍患者中诊断这组疾病，以及识别先天性免疫缺陷患者生长障碍的不同原因，这有助于治疗。
非系统性文献复习，自 2000 年以来在 PubMed 中使用“生长”、“生长障碍”、“生长不良”或“身材矮小”和“免疫缺陷综合征”、“免疫缺陷疾病”或“免疫缺陷”（不包括 HIV）检索文章。在在线孟德尔遗传数据库（OMIN）中搜索免疫缺陷和身材矮小或生长不良。
先天性免疫缺陷可以以不同的方式影响生长，其中一些可以通过多种同时发生的机制改变生长：遗传综合征；骨关节炎系统疾病；内分泌系统疾病；热量摄入减少；分解代谢过程；营养物质丢失；炎症和/或感染情况。
先天性免疫缺陷的类型可以预测可能出现的哪种生长障碍。生长障碍的类型有助于诊断与先天性免疫缺陷相关的临床情况。在许多先天性免疫缺陷中，生长不良的原因是混合的，涉及多个因素。在许多情况下，适当的先天性免疫缺陷治疗或适当的生长障碍机制方法可以调整生长不良。
