Costagliola Giorgio, Peroni Diego G, Consolini Rita
Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Front Pediatr. 2022 Jun 10;10:855445. doi: 10.3389/fped.2022.855445. eCollection 2022.
Patients with inborn errors of immunity (IEI) are susceptible to developing a severe infection-related clinical phenotype, but the clinical consequences of immune dysregulation, expressed with autoimmunity, atopy, and lymphoproliferation could represent the first sign in a significant percentage of patients. Therefore, during the diagnostic work-up patients with IEI are frequently addressed to different specialists, including endocrinologists, rheumatologists, and allergologists, often resulting in a delayed diagnosis. In this paper, the most relevant non-infectious manifestations of IEI are discussed. Particularly, we will focus on the potential presentation of IEI with autoimmune cytopenia, non-malignant lymphoproliferation, severe eczema or erythroderma, autoimmune endocrinopathy, enteropathy, and rheumatologic manifestations, including vasculitis and systemic lupus erythematosus. This paper aims to identify new warning signs to suspect IEI and help in the identification of patients presenting with atypical/non-infectious manifestations.
先天性免疫缺陷（IEI）患者易发展出严重的感染相关临床表型，但以自身免疫、特应性和淋巴细胞增殖表现出的免疫失调的临床后果，在相当比例的患者中可能是首发症状。因此，在诊断检查过程中，IEI患者经常会被转诊给不同的专科医生，包括内分泌科医生、风湿科医生和过敏科医生，这常常导致诊断延迟。本文讨论了IEI最相关的非感染性表现。特别地，我们将重点关注IEI可能出现的自身免疫性血细胞减少、非恶性淋巴细胞增殖、严重湿疹或红皮病、自身免疫性内分泌病、肠病以及风湿性表现，包括血管炎和系统性红斑狼疮。本文旨在识别怀疑IEI的新警示信号，并帮助识别表现出非典型/非感染性表现的患者。
