Immunological Evaluation of Pediatric Patients With Polyautoimmunity Publisher Pubmed



Mahdavi FS¹ ; Tavakol M² ; Aghamahdi F² ; Sadri H² ; Chavoshzadeh Z³ ; Jamee M^{3, 4} ; Noorian S⁵ ; Alaei MR⁶ ; Ashkevari P¹ ; Anaya JM⁷ ; Abolhassani H^{8, 9} ; Ochs HD¹⁰ ; Azizi G^{2, 11} Show Affiliations
Source: Endocrine# Metabolic and Immune Disorders - Drug Targets Published:2024

Abstract

Background: Autoimmunity can be the first or predominant manifestation in patients with primary immunodeficiency disorder, also known as inborn errors of immunity (IEI). This study aims to evalu-ate the immune status of pediatric patients with polyautoimmunity to identify those with underlying immune defects. Methods: In this cross-sectional study, pediatric patients with polyautoimmunity including at least one confirmed autoimmune endocrine disease were enrolled. Demographic and clinical data were collected using a questionnaire based on medical records and direct family interviews. For each patient, a basic immunologic evaluation was performed. The clinical diagnosis was established according to the criteria of the European Society for Immunodeficiencies (ESID). Based on the presence or absence of a history of severe and/or recurrent infections, patients were divided into two groups for comparison. Results: Thirty-nine patients, 18 males (46.2%) and 21 females (53.8%), were included. Fourteen patients (35.9%) had consanguineous parents. Fifteen patients (38.5%) had a history of severe and/or recurrent in-fections. The median (interquartile range: IQR) age of our patients at the time of evaluation was 11.1 (9-16) years. The median (IQR) age at the onset of infections and autoimmunities were 3 (1-10.8) and 5 (2.6-8) years, respectively. The most common infectious complications reported were pneumonia and candidiasis, each in 12.8% of the patients. The most prevalent autoimmune disorders were type 1 diabetes (74.3%) and autoimmune thyroiditis (58.9%). IEI was diagnosed in six patients (15.38%), five of which were from the group with severe or recurrent infections: three with selective IgA deficiency, two with common variable immunodeficiency (CVID), and one with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX), but without a history of infections. Conclusion: The occurrence of early onset polyautoimmunity in association with severe and/or recurrent infections or in patients with a positive family history should be a warning sign for physicians to initiate an evaluation for possible immunodeficiency disorders to prevent complications through early treatment. © 2024, Bentham Science Publishers. All rights reserved.