Advances in Pediatric Autoinflammatory Disease

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Allergy and Immunology".

Deadline for manuscript submissions: closed (30 April 2025) | Viewed by 1191

Special Issue Editor


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Guest Editor
Department of Pediatrics, University Hospital of Heraklion, Medical School University of Crete, 71500 Giofirakia, Greece
Interests: inflammatory responses; autoinflammatory diseases; immunodeficiencies; immune dysregulation disorders

Special Issue Information

Dear Colleagues,

Autoinflammatory diseases are a group of rare, inherited disorders with the first clinical signs presenting during childhood, leading to a significant burden on patients and their families due to uncontrolled inflammation, pain and organ damage.

Advances in research on the genetic basis and immunological mechanisms behind these diseases have enhanced our understanding of autoinflammatory diseases and introduced new treatment possibilities. According to new knowledge, diseases such as chronic recurrent multifocal osteomyelitis and systemic juvenile idiopathic arthritis are categorized in the autoinflammatory spectrum of diseases.

The aims of this Special Issue  is to collect original research, reviews or mini reviews, as well as editorial papers that focus on advances in the genetics, epidemiology, diagnosis and management of autoinflammatory diseases in children.

Dr. Chryssoula Perdikogianni
Guest Editor

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Keywords

  • immune dysregulation
  • autoinflammatory diseases
  • inflammatory responses
  • children
  • familial Mediterranean fever (FMF)
  • cryopyrin-associated periodic syndromes (CAPS)
  • tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
  • PFAPA syndrome
  • chronic recurrent multifocal osteomyelitis
  • systemic juvenile idiopathic arthritis

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Published Papers (1 paper)

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Research

11 pages, 486 KiB  
Article
Should We Adopt Increased Dilutions for Indirect Immunofluorescence in Pediatric Anti-Centromere Antibody Testing? Insights from a Three-Year Retrospective Study
by Mehmet Soylu, Raziye Burcu Taşkın, Gülçin Aytaç, Güzide Aksu, Seyfi Durmaz, Miray Karakoyun and Şaziye Rüçhan Sertöz
Children 2025, 12(1), 36; https://doi.org/10.3390/children12010036 - 28 Dec 2024
Viewed by 794
Abstract
Background/Objectives: Systemic autoimmune rheumatic diseases (SARDs) pose diagnostic challenges, particularly in pediatric populations, due to their diverse presentations and overlapping symptoms. This study aimed to evaluate the diagnostic concordance between indirect immunofluorescence (IIF) at different dilution levels (1/80 and 1/640) and immunoblot findings [...] Read more.
Background/Objectives: Systemic autoimmune rheumatic diseases (SARDs) pose diagnostic challenges, particularly in pediatric populations, due to their diverse presentations and overlapping symptoms. This study aimed to evaluate the diagnostic concordance between indirect immunofluorescence (IIF) at different dilution levels (1/80 and 1/640) and immunoblot findings for anti-centromere antibody (ACA) positivity. Additionally, the clinical significance of ACA positivity and its association with SARDs in pediatric patients was assessed. Methods: This retrospective, cross-sectional study included 58 pediatric patients evaluated for anti-nuclear antibody (ANA) testing at Ege University Hospital from 2019 to 2021. IIF was performed using HEp-20-10 cells and immunoblot testing was conducted to assess CENP-B reactivity. Statistical analyses included chi-square tests, correspondence analysis, and regression modeling to explore the relationship between IIF titers, immunoblot findings, and SARD diagnoses. Results: Among the patients, 62.1% were diagnosed with SARD. Higher IIF titers (≥1/640) were strongly associated with CENP-B 3+ immunoblot positivity, while lower titers (1/80 and 1/320) correlated with CENP-B 1+. Patients with IIF positivity at 1/80 were 15.89 times more likely to have SARD (p < 0.001). Correspondence analysis revealed significant associations between IIF dilution levels and immunoblot reactivity (χ2 = 37.574, p < 0.000). Gender and age were not significant predictors of SARD positivity. Conclusions: This study highlights the diagnostic value of higher IIF dilution levels (≥1/640) in improving ACA detection and SARD diagnosis in pediatric patients. Incorporating complementary diagnostic tools, such as immunoblot testing, can enhance diagnostic accuracy. These findings support adopting higher IIF cutoff levels in clinical practice for pediatric populations. Full article
(This article belongs to the Special Issue Advances in Pediatric Autoinflammatory Disease)
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