Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
2.9
Journals
JCM
Special Issues
Inborn Errors of Immunity: Advances in Diagnosis and Treatment
jcm-logo
Submit to JCM Review for JCM Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Inborn Errors of Immunity: Advances in Diagnosis and Treatment

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology & Rheumatology".

Deadline for manuscript submissions: closed (25 September 2025) | Viewed by 14074

Special Issue Editor

Dr. Jolanta Bernatoniene

E-Mail Website
Guest Editor
Department of Paediatric Immunology and Infectious Diseases, Bristol Royal Children's Hospital for Children, Bristol, UK
Interests: chronic granulomatous disease; pediatric inflammatory multisystem syndrome; HIV and its related complications; infections; immunology; autoimmunity

Special Issue Information

Dear Colleagues,

Inborn Errors of Immunity are a group of over 450 types of disorders caused by intrinsic defects in the immune system, leading to increased susceptibility to infections and other immune-related issues. Despite recent advances in the field, many challenges remain in the diagnosis and therapeutic options of these complex conditions.

The scope of this Special Issue will cover a range of topics, including the underlying genetic and molecular mechanisms of PIDs, novel diagnostic approaches, and emerging therapeutic options. We welcome submissions that address core problems such as improving early detection, developing targeted therapies, and optimizing standards of care. Particular emphasis will be placed on articles that showcase interdisciplinary collaboration and translational research to bridge the gap between scientific discoveries and clinical implementation.

By mobilizing experts from diverse backgrounds, this Special Issue aspires to catalyze innovative solutions, accelerate knowledge exchange, and ultimately enhance the quality of life for patients living with Inborn Errors of Immunity. We encourage clinicians, researchers, and allied healthcare professionals to contribute their latest findings and perspectives to this timely and important collection.

Dr. Jolanta Bernatoniene
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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. Journal of Clinical Medicine 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

  • inborn errors of immunity (IEI)
  • primary immunodeficiencies (PID)
  • chronic granulomatous disease
  • PIK3CD mutations
  • immunology
  • autoimmunity

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Review

Jump to: Other

25 pages, 1856 KB  
Review
Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era
by Conor J. O’Donovan, Lay Teng Tan, Mohd A. Z. Abidin, Marion R. Roderick, Alexandros Grammatikos and Jolanta Bernatoniene
J. Clin. Med. 2024, 13(15), 4435; https://doi.org/10.3390/jcm13154435 - 29 Jul 2024
Cited by 2 | Viewed by 9333
Abstract
Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. Despite recent advances in our understanding of the genetic and [...] Read more.
Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. Despite recent advances in our understanding of the genetic and molecular pathophysiology of X-linked and autosomal recessive CGD, and growth in the availability of functional and genetic testing, there remain significant barriers to early and accurate diagnosis. In the current review, we provide an up-to-date summary of CGD pathophysiology, underpinning current methods of diagnostic testing for CGD and closely related disorders. We present an overview of the benefits of early diagnosis and when to suspect and test for CGD. We discuss current and historical methods for functional testing of NADPH oxidase activity, as well as assays for measuring protein expression of NADPH oxidase subunits. Lastly, we focus on genetic and genomic methods employed to diagnose CGD, including gene-targeted panels, comprehensive genomic testing and ancillary methods. Throughout, we highlight general limitations of testing, and caveats specific to interpretation of results in the context of CGD and related disorders, and provide an outlook for newborn screening and the future. Full article
(This article belongs to the Special Issue Inborn Errors of Immunity: Advances in Diagnosis and Treatment)
►▼ Show Figures

Figure 1

Other

Jump to: Review

26 pages, 520 KB  
Systematic Review
Application of Artificial Intelligence in Inborn Errors of Immunity Identification and Management: Past, Present, and Future—A Systematic Review
by Ivan Taietti, Martina Votto, Marta Colaneri, Matteo Passerini, Jessica Leoni, Gian Luigi Marseglia, Amelia Licari and Riccardo Castagnoli
J. Clin. Med. 2025, 14(17), 5958; https://doi.org/10.3390/jcm14175958 - 23 Aug 2025
Cited by 1 | Viewed by 909
Abstract
Background: Inborn errors of immunity (IEI) are mainly genetically driven disorders that affect immune function and present with highly heterogeneous clinical manifestations, ranging from severe combined immunodeficiency (SCID) to adult-onset immune dysregulatory diseases. This clinical heterogeneity, coupled with limited awareness and the [...] Read more.
Background: Inborn errors of immunity (IEI) are mainly genetically driven disorders that affect immune function and present with highly heterogeneous clinical manifestations, ranging from severe combined immunodeficiency (SCID) to adult-onset immune dysregulatory diseases. This clinical heterogeneity, coupled with limited awareness and the absence of a universal diagnostic test, makes early and accurate diagnosis challenging. Although genetic testing methods such as whole-exome and genome sequencing have improved detection, they are often expensive, complex, and require functional validation. Recently, artificial intelligence (AI) tools have emerged as promising for enhancing diagnostic accuracy and clinical decision-making for IEI. Methods: We conducted a systematic review of four major databases (PubMed, Scopus, Web of Science, and Embase) to identify peer-reviewed English-published studies focusing on the application of AI techniques in the diagnosis and treatment of IEI across pediatric and adult populations. Twenty-three retrospective/prospective studies and clinical trials were included. Results: AI methodologies demonstrated high diagnostic accuracy, improved detection of pathogenic mutations, and enhanced prediction of clinical outcomes. AI tools effectively integrated and analyzed electronic health records (EHRs), clinical, immunological, and genetic data, thereby accelerating the diagnostic process and supporting personalized treatment strategies. Conclusions: AI technologies show significant promise in the early detection and management of IEI by reducing diagnostic delays and healthcare costs. While offering substantial benefits, limitations such as data bias and methodological inconsistencies among studies must be addressed to ensure broader clinical applicability. Full article
(This article belongs to the Special Issue Inborn Errors of Immunity: Advances in Diagnosis and Treatment)
►▼ Show Figures

Figure 1

8 pages, 3680 KB  
Case Report
Very Early-Onset IBD-Associated IL-18opathy Treated with an Anti-IL-18 Antibody
by Anthea Guha, Rodrigo Diaz-Pino, Andrew Fagbemi, Stephen M. Hughes, Robert F. Wynn, Gloria Lopez-Castejon and Peter D. Arkwright
J. Clin. Med. 2024, 13(20), 6058; https://doi.org/10.3390/jcm13206058 - 11 Oct 2024
Cited by 3 | Viewed by 3246
Abstract
Background/Objectives: The aetiology of inflammatory bowel disease (IBD), particularly if occurring early in childhood, is a diverse and patient-focused treatment that is required when standard therapy is ineffective. Materials and Methods: A clinical case report is presented of a child with very [...] Read more.
Background/Objectives: The aetiology of inflammatory bowel disease (IBD), particularly if occurring early in childhood, is a diverse and patient-focused treatment that is required when standard therapy is ineffective. Materials and Methods: A clinical case report is presented of a child with very early-onset IBD (VEOIBD) and evidence of high serum IL-18 responding to anti-IL-18 immunotherapy. Detailed cytokine profiling was performed by ELISA and multiplex assay flow cytometry. Results: A four-year-old girl with recalcitrant VEOIBD from six weeks old due to an IL-18opathy, characterised by high blood IL-18 concentration, responded to therapy with a novel neutralising anti-IL-18 antibody (GSK1070806). After two years of hospitalisation, the child’s systemic inflammation and extensive upper and lower gastrointestinal mucosal ulceration remitted with this cytokine inhibitor, allowing the discontinuation of total parenteral nutrition and the resumption of normal oral intake and daily activities. After 18 months on regular GSK1070806, the patient remains in disease remission. Conclusions: VEOIBD can be associated with evidence of an underlying IL18opathy and responds to anti-IL-18 antibody therapy. IL-18 should be measured in patients with IBD unresponsive to conventional treatments, and, if elevated, anti-IL-18 antibody therapy should be considered as a potential therapy. Full article
(This article belongs to the Special Issue Inborn Errors of Immunity: Advances in Diagnosis and Treatment)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop