Immunological Evaluation of Pediatric Patients with Polyautoimmunity

Fatemeh Sadat Mahdavi; Marzieh Tavakol; Fatemeh Aghamahdi; Homa Sadri; Zahra Chavoshzadeh; Mahnaz Jamee; Shahab Noorian; Mohammad Reza Alaei; Pooya Ashkevari; Juan-Manuel Anaya; Hassan Abolhassani; Hans D Ochs; Gholamreza Azizi

doi:10.2174/1871530323666230912124951

Immunological Evaluation of Pediatric Patients with Polyautoimmunity

Endocr Metab Immune Disord Drug Targets. 2023 Sep 12. doi: 10.2174/1871530323666230912124951. Online ahead of print.

Authors

Affiliations

¹ Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran.
² Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.
³ Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁴ Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁵ Department of Pediatric Endocrinology and Metabolism, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
⁶ Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁷ Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
⁸ Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.
⁹ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
¹⁰ Department of Pediatrics, University of Washington School of Medicine, Seattle, and Seattle Children's Research Institute, Seattle, WA, USA.

PMID: 37702233
DOI: 10.2174/1871530323666230912124951

Abstract

Background: Autoimmunity can be the first or predominant manifestation in patients with primary immunodeficiency disorder, also referred to as inborn errors of immunity (IEI). This study aims to evaluate 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 infections. 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.

Keywords: autoimmune endocrinopathy; inborn errors of immunity; polyautoimmunity; recurrent infections.