Szczawińska-Popłonyk, A.; Ciesielska, W.; Konarczak, M.; Opanowski, J.; Orska, A.; Wróblewska, J.; Szczepankiewicz, A. Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency. Preprints2024, 2024080300. https://doi.org/10.20944/preprints202408.0300.v1
APA Style
Szczawińska-Popłonyk, A., Ciesielska, W., Konarczak, M., Opanowski, J., Orska, A., Wróblewska, J., & Szczepankiewicz, A. (2024). Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency. Preprints. https://doi.org/10.20944/preprints202408.0300.v1
Chicago/Turabian Style
Szczawińska-Popłonyk, A., Julia Wróblewska and Aleksandra Szczepankiewicz. 2024 "Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency" Preprints. https://doi.org/10.20944/preprints202408.0300.v1
Abstract
Common variable immunodeficiency (CVID) is the most common symptomatic antibody deficiency, characterized by heterogeneous genetic, immunological, and clinical phenotypes. It has no longer been conceived as a sole disease but as an umbrella diagnosis comprising a spectrum of clinical conditions with defects in antibody biosynthesis as their common denominator and complex pathways determining B and T cell developmental impairments due to genetic defects of many receptors and ligands, activating and co-stimulatory molecules, and intracellular signaling molecules. Consequently, these genetic variants may affect crucial immunological processes of antigen presentation, antibody class switch recombination, antibody affinity maturation, and somatic hypermutation. While infections are the most common features of pediatric CVID, variants in genes linked to antibody production defects play a role in pathomechanisms of immune dysregulation with autoimmunity, allergy, and lymphoproliferation reflecting the diversity of the immunogenetic underpinnings of CVID. Herein, we have reviewed the aspects of genetics in CVID, including the monogenic, digenic, and polygenic models of inheritance exemplified by a scope of genes relevant to CVID pathophysiology. We have also briefly discussed the epigenetic mechanisms associated with micro RNA, DNA methylation, chromatin reorganization, and histone protein modification processes as background for CVID development.
Keywords
antibody deficiency; common variable immunodeficiency; epigenetics; immune dysregulation; inborn error of immunity; whole exome sequencing
Subject
Biology and Life Sciences, Immunology and Microbiology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
