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Molecular Advances in Inborn Errors of Immunity

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Immunology".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 841

Special Issue Editor


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Guest Editor
Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland
Interests: inborn errors of immunity; immune dysregulation; autoimmunity; autoinflammation; organ-specific immunopathology; immunotherapy
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Special Issue Information

Dear Colleagues,

Inborn errors of immunity comprise a wide spectrum of conditions characterized by a marked immunogenetic and phenotypic heterogeneity. Beyond an increased susceptibility to infections, the clinical symptomatology is associated with immune dysregulation encompassing autoimmune, allergic, autoinflammatory, and lymphoproliferative complications as well as organ-specific immunopathology. The ever-increasing advancements in molecular genetics have contributed to uncovering immunogenetic underpinnings and elucidating the phenotype–genotype interconnections of inborn errors of immunity. From the era of clinical and immunological diagnosis, we are surpassing the era of molecular immunogenetics, genomics, proteomics, and metabolomics, paving a new way to precision medicine and novel patient-tailored targeted immunomodulatory therapeutic interventions.

This Special Issue aims to discuss and highlight the immunopathogenesis of inborn errors of immunity, focusing on the role of specific genes, signaling pathways, and molecular interplays. The thematic scope of the articles will comprise the clinical, diagnostic, and therapeutic aspects of these disorders in the context of molecular immunogenetics.

In this Special Issue, original research articles and reviews are particularly welcome. Instructive case reports on unusual clinico-pathological studies of immune conditions will also be accepted.

Dr. Aleksandra Szczawińska-Popłonyk
Guest Editor

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Keywords

  • inborn errors of immunity
  • immune dysregulation
  • autoimmunity
  • autoinflammation
  • organ-specific immunopathology
  • immunotherapy

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Published Papers (1 paper)

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Review

21 pages, 916 KiB  
Review
The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency
by Aleksandra Szczawińska-Popłonyk, Julia Bekalarska, Kacper Jęch, Nadia Knobloch, Oliwia Łukasik, Aleksandra Ossowska, Jędrzej Ruducha and Zuzanna Wysocka
Int. J. Mol. Sci. 2025, 26(6), 2653; https://doi.org/10.3390/ijms26062653 - 15 Mar 2025
Viewed by 604
Abstract
The pediatric common variable immunodeficiency (CVID) is the most frequent symptomatic antibody production defect characterized by infectious and non-infectious autoimmune, inflammatory, and lymphoproliferative complications. The background for CVID-related organ-specific immunopathology is associated with immune dysregulation and immunophenotypic biomarkers with expansion of CD21low B [...] Read more.
The pediatric common variable immunodeficiency (CVID) is the most frequent symptomatic antibody production defect characterized by infectious and non-infectious autoimmune, inflammatory, and lymphoproliferative complications. The background for CVID-related organ-specific immunopathology is associated with immune dysregulation and immunophenotypic biomarkers with expansion of CD21low B cells, and dysfunctional memory B cell, follicular T cell, and regulatory T cell compartments. The ever-increasing progress in immunogenetics shows the heterogeneity of genetic background for CVID related to the complexity of clinical phenotypes. Multiple systemic modulatory pathways are determined by variants in such genes as TACI or TNFRSF13B gene encoding for BAFF-R, CTLA-4, LRBA, NFKB1 and NFKB2, and PIK3CD or PIK3R1. The organ-specific immunopathology encompasses a spectrum of disorders associated with immune dysregulation, such as granulomatous interstitial lung disease, hepatocellular nodular regenerative hyperplasia, enteropathy, neuropathy, endocrinopathies, and dermatoses. This review is aimed to define and delineate the organ-specific immunopathology in pediatric CVID. It is also conducted to gather data facilitating a better understanding of complex and heterogeneous immunophenotypes in the context of immune dysregulation mechanisms and genetic background determining manifestations of the disease and implicating personalized targeted therapies with biological agents. Full article
(This article belongs to the Special Issue Molecular Advances in Inborn Errors of Immunity)
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