Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children

Frontiers in Pediatrics

article

Giorgio Costagliola¹  Diego G. Peroni²  Rita Consolini¹ 

[1] Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa;Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa

关键词: autoimmune cytopenia;    autoimmune lymphoproliferative syndrome;    eczema;    enteropathy;    hyper IgE syndrome (HIES);    IPEX syndrome;    lymphadenopathy;    immunodeficiency–primary;   

DOI  :  10.3389/fped.2022.855445

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY