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Advances in the Diagnosis and Management of Pediatric Autoimmune Diseases—2nd...
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Advances in the Diagnosis and Management of Pediatric Autoimmune Diseases—2nd Edition

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 March 2025) | Viewed by 3541

Special Issue Editors

Dr. Dimitri Poddighe

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Guest Editor
1. Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan 010000, Kazakhstan
2. Clinical Academic Department of Pediatrics, National Research Center of Maternal and Child Health, University Medical Center, Nur-Sultan 010000, Kazakhstan
Interests: autoimmunity; pediatrics; rheumatology; gastroenterology; immunology
Special Issues, Collections and Topics in MDPI journals
Dr. Micol Romano

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Guest Editor
1. Division of Paediatric Rheumatology, Department of Paediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5C1, Canada
2. Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID), University of Western Ontario, London, ON N6A 5C1, Canada
Interests: pediatric rheumatology; autoinflammatory diseases; systemic vasculitides; systemic lupus erythematosus
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Autoimmune diseases are medical conditions driven by the persistent activation of self-reactive B and/or T lymphocytes, due to the impairment of the physiological mechanisms of central and/or peripheral immunological tolerance. In general, these are multi-factorial disorders: they recognize a background of genetic predisposition (usually polygenic, but often not well-defined), where multiple and variable environmental factors superimpose in order to trigger the autoimmune pathological process. The role of the microbiome and, in general, epigenetic factors is also gradually emerging. Autoimmune diseases can manifest in children: several clinical and pathological aspects often differ from those shown by adult patients affected by the same autoimmune disease; moreover, the longer life expectancy and the ongoing growth process in children raise specific issues and questions in terms of medical management, therapeutic approach, and long-term complications. Finally, the current COVID-19 pandemic brought additional challenges in this specific field.

In this Special Issue, we aim to cover the current knowledge, ongoing progresses, and future perspectives in biomedical research on the diagnosis and medical management of pediatric autoimmune disorders. Moreover, articles investigating and discussing the immune-pathogenic and clinical peculiarities (including comorbidities) of autoimmune diseases and immune-mediated phenomena in children are also welcome.

Dr. Dimitri Poddighe
Dr. Micol Romano
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • children
  • autoimmunity
  • autoinflammatory diseases
  • pediatric rheumatology
  • innovative and biological therapies
  • comorbidity
  • immune-mediated manifestations

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Published Papers (3 papers)

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Research

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13 pages, 1292 KiB  
Article
Evaluating the Role of CBC-Derived Indices in Children with Hashimoto’s Thyroiditis
by Andrei-Ioan Munteanu, Iulius Jugănaru, Delia-Maria Nicoară, Niculina Mang, Raluca Vasilescu, Giorgiana-Flavia Brad, Alexandra-Cristina Scutca, Raluca Asproniu, Lucian-Ioan Cristun and Otilia Mărginean
Diagnostics 2024, 14(24), 2834; https://doi.org/10.3390/diagnostics14242834 - 17 Dec 2024
Cited by 1 | Viewed by 832
Abstract
Background/Objectives: Hashimoto’s thyroiditis (HT) is an autoimmune disorder characterized by chronic inflammation of the thyroid gland. Recent evidence indicates that the inflammation may extend beyond the thyroid. The study aims to explore the potential of complete blood count (CBC)-derived indices as markers of [...] Read more.
Background/Objectives: Hashimoto’s thyroiditis (HT) is an autoimmune disorder characterized by chronic inflammation of the thyroid gland. Recent evidence indicates that the inflammation may extend beyond the thyroid. The study aims to explore the potential of complete blood count (CBC)-derived indices as markers of systemic inflammation in HT. Materials and Methods: This cross-sectional retrospective study from 1 January 2015, to 31 December 2023 included 147 pediatric HT patients and 144 apparently healthy controls. Thyroid profiles, antibodies, CBC, and protein electrophoresis data were collected from patient records. CBC-derived indices were calculated and compared between the HT and control groups, as well as among HT subgroups. Results: The median age of HT patients was 13.6 years (range: 11.2–15.5 years), with 66% being girls. The control group had a similar age and gender distribution, with a median age of 13.7 years (range: 11–15.8 years) and 70.8% girls. Of the HT patients, 50% had subclinical HT, 15% were euthyroid, and 34% had overt thyroid dysfunction. HT patients showed significantly higher neutrophil and lymphocyte counts, as well as all evaluated CBC-derived indices than controls (p < 0.001)). These differences were not significant among HT subgroups. Logistic regression indicated a strong association between an elevated neutrophil-to-lymphocyte ratio (NLR) and HT diagnosis (p < 0.001), while ROC analysis confirmed NLR as the most accurate CBC-derived marker for distinguishing HT from controls. Conclusions: Elevated NLR levels in pediatric HT patients provide additional evidence that inflammation may extend beyond the thyroid gland. These results support the potential of NLR as a reliable and accessible biomarker for evaluating inflammation in Hashimoto’s thyroiditis. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Autoimmune Diseases—2nd Edition)
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Review

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17 pages, 755 KiB  
Review
Pancreatic Comorbidities in Pediatric Celiac Disease: Exocrine Pancreatic Insufficiency, Pancreatitis, and Diabetes Mellitus
by Dimitri Poddighe
Diagnostics 2025, 15(10), 1243; https://doi.org/10.3390/diagnostics15101243 - 14 May 2025
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Abstract
Celiac disease (CD) is a chronic and immune-mediated disorder triggered by the ingestion of gluten in some genetically predisposed individuals. CD can be associated with extra-gastrointestinal manifestations and diseases affecting several organs. In this review, the aim is to analyze and discuss the [...] Read more.
Celiac disease (CD) is a chronic and immune-mediated disorder triggered by the ingestion of gluten in some genetically predisposed individuals. CD can be associated with extra-gastrointestinal manifestations and diseases affecting several organs. In this review, the aim is to analyze and discuss the pancreatic alterations and/or comorbidities that could arise in the context of pediatric CD. Exocrine pancreatic insufficiency (EPI) can be observed in a variable fraction (up to 30%) of children diagnosed with CD at the diagnosis; indeed, it usually resolves after the implementation of a gluten-free diet (GFD). The main pathophysiological mechanisms of EPI could be represented by the impaired pattern of gastrointestinal hormones in CD patients. Conversely, pancreatitis seems to be a very rare comorbidity in CD children, since very few cases have been described in children. Therefore, there is no evidence that pancreatitis (including autoimmune forms) represents a relevant comorbidity in pediatric CD. Type 1 diabetes mellitus (T1DM) is a well-known and frequent comorbidity in CD children. The main determinant of this epidemiological association is the common HLA-related predisposing background, even if other (non-HLA-related) genetic and environmental factors (viruses, gut microbiome, and others) are likely to be also implicated in the development of both these autoimmune diseases. T1DM children with concomitant CD may experience specific challenges in the adherence to GFD, which has no negative impact on the glycemic and, in general, metabolic control of diabetes, if it is properly implemented and followed up. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Autoimmune Diseases—2nd Edition)
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13 pages, 612 KiB  
Review
Familial Mediterranean Fever; Recent Advances, Future Prospectives
by Micol Romano, David Piskin, Ovgu Kul Cinar and Erdal Sag
Diagnostics 2025, 15(7), 813; https://doi.org/10.3390/diagnostics15070813 - 23 Mar 2025
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Abstract
Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days. Colchicine is the mainstay therapy, which decreases the number [...] Read more.
Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days. Colchicine is the mainstay therapy, which decreases the number of attacks and eventually prevents amyloidosis, the most worrisome complication of uncontrolled FMF. It is an autosomal recessive disease. The high rate of MEFV gene mutations in specific populations has been discussed as the result of an evolutionary advantage. Tel-Hashomer criteria were the first set of criteria primarily designed for adults. Recently, the Eurofever/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. Colchicine intolerance is an important problem and limits the ability to reach an effective dose. In these groups of patients, adding an alternative biological treatment (anti IL-1 agents) is recommended. Several tools such as FMF50, AIDAI, ADDI, ISSF and MASIF have been proposed to evaluate and quantify the disease activity and organ damage. Ongoing research should clarify the exact mechanisms causing FMF attacks and phenotypic variabilities between the patients; further translational research requires the implementation of proteomics and epigenetics signatures to elucidate the pathogenesis. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Autoimmune Diseases—2nd Edition)
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