Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Medignition Inc., Medical Research Consultants, Zurich, Switzerland.
J Allergy Clin Immunol Pract. 2021 Feb;9(2):792-802.e10. doi: 10.1016/j.jaip.2020.10.057. Epub 2020 Nov 11.
Immune dysregulation is as important as susceptibility to infection in defining primary immunodeficiencies (PIDs). Because of the variability and nonspecificity of the symptoms of PIDs, diagnosis can be delayed-especially if a patient presents with immune dysregulation. Diagnosis is then based on certain combinations of symptoms and relies on the clinician's ability to recognize a pattern. So far there is no large report linking patterns of immune dysregulations to the underlying genetic defects.
To identify immune dysregulatory patterns associated with PIDs and to help clinicians to detect an underlying PID in certain patients with noninfectious inflammatory diseases.
A systematic literature review was performed.
We included 186 articles that reported on n = 745 patients. The most common immune dysregulation category was "autoimmunity" (62%, n = 463), followed by "intestinal disease" (38%, n = 283) and "lymphoproliferation" (36%, n = 268). Most patients (67%) had 1 or more symptoms of immune dysregulation. Autoimmune hemolytic anemia, the most common autoimmune phenotype, was most frequently reported in patients with LPS responsive beige-like anchor protein deficiency (when combined with hypogammaglobulinemia or gastrointestinal symptoms), activation-induced cytidine deaminase deficiency (when combined with autoimmune hepatitis), or RAG1 deficiency (when it was the only symptom of immune dysregulation). Eczema, allergies, and asthma were reported in 34%, 4%, and 4% of the patients, respectively.
Patterns of immune dysregulation may help the physician to recognize specific PIDs. This systematic review provides clinicians with an overview to better assess patients with immune dysregulation.
免疫失调与感染易感性一样，在确定原发性免疫缺陷（PID）中至关重要。由于 PID 症状的可变性和非特异性，诊断可能会延迟 - 特别是如果患者出现免疫失调。因此，诊断基于某些症状组合，并依赖于临床医生识别模式的能力。到目前为止，还没有大的报告将免疫失调模式与潜在的遗传缺陷联系起来。
确定与 PID 相关的免疫失调模式，并帮助临床医生在某些患有非传染性炎症性疾病的患者中发现潜在的 PID。
进行了系统的文献回顾。
我们纳入了 186 篇报告了 n = 745 例患者的文章。最常见的免疫失调类别是“自身免疫”（62%，n = 463），其次是“肠道疾病”（38%，n = 283）和“淋巴增生”（36%，n = 268）。大多数患者（67%）有 1 种或多种免疫失调症状。自身免疫性溶血性贫血是最常见的自身免疫表型，在 LPS 反应性 beige 样锚蛋白缺陷（与低丙种球蛋白血症或胃肠道症状结合时）、激活诱导的胞苷脱氨酶缺陷（与自身免疫性肝炎结合时）或 RAG1 缺陷（当它是唯一的免疫失调症状时）患者中最常报告。湿疹、过敏和哮喘分别在 34%、4%和 4%的患者中报告。
免疫失调模式可能有助于医生识别特定的 PID。本系统评价为临床医生提供了一个概述，以更好地评估免疫失调患者。
