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 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, Xlinked
(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.
Graphical Abstract
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,
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 and
Gholamreza Azizi*
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