Primary immunodeficiencies (PIDs) are immune disorders resulting from defects in genes involved in immune regulation, and manifesting as an increased susceptibility to infections, autoimmunity, and cancer. However, the molecular basis of some prevalent entities remains poorly understood. Epigenetic control is essential for immune functions, and epigenetic alterations have been identified in different PIDs, including syndromes such as immunodeficiency-centromeric-instability-facial-anomalies, Kabuki, or Wolf-Hirschhorn, among others. Although the epigenetic changes may differ among these PIDs, the reversibility of epigenetic modifications suggests that they might become potential therapeutic targets. Here, we review recent mechanistic advances in our understanding of epigenetic alterations associated with certain PIDs, propose that a fully epigenetically driven mechanism might underlie some PIDs, and discuss the possible prophylactic and therapeutic implications.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.it.2018.11.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Incidence and risk factors of anemia among newly reported HIV/AIDS patients in Jiangsu Province in 2021].
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi
December 2024
School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 210000, China.
Objective: To investigate the incidence of anemia and evaluate the immune status among newly reported HIV/AIDS patients in Jiangsu Province in 2021, and to identify the risk factors of anemia among patients living with HIV infections.
Methods: Newly reported HIV/AIDS patients in Jiangsu Province from January 1 to December 31, 2021 that were registered in China's National AIDS Comprehensive Control Information Management System were enrolled. Subjects' fresh whole blood samples were collected, and hemoglobin levels, CD4 and CD8 cell counts and HIV viral loads were measured.
Transformation of brain myeloid cell populations by SIV in rhesus macaques revealed by multiomics.
Commun Biol
January 2025
Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.
The primary immune constituents in the brain, microglia and macrophages, are the target for HIV in people and simian immunodeficiency virus (SIV) in nonhuman primates. This infection can lead to neurological dysfunction, known as HIV-associated neurocognitive disorder (HAND). Given the gaps in our knowledge on how these cells respond in vivo to CNS infection, we perform single-cell multiomic sequencing, including gene expression and ATAC-seq, on myeloid cells from the brains of rhesus macaques with SIV-induced encephalitis (SIVE) as well as uninfected controls.
View Article and Find Full Text PDFLymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.
Biomedica
December 2024
Universidad del Valle, Cali, ColombiaDepartamento de Microbiología, Facultad de Salud, Universidad del Valle, Cali, Colombia; Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disorders, National Institutes of Health, Bethesda, MD, USA.
Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (encoding p85α, p55α, and p50α) lead to the development of the activated PI3K δ syndrome.
View Article and Find Full Text PDFUnderstanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study.
Biomedica
December 2024
Departamento de Medicina, Facultad de Salud, Universidad ICESI, Cali, Colombia; Departamento de Alergología Pediátrica, Fundación Valle del Lili, Cali, Colombia.
Introduction: Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological conditions. Secondary immunodeficiencies can lead to the initiation, reactivation, or acceleration of latent, residual, or active infections, which are the leading cause of mortality.
View Article and Find Full Text PDFFunctional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF Syndrome and reveals broad immune cell defects.
Clin Exp Immunol
January 2025
Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Introduction: STAT3 orchestrates crucial immune responses through its pleiotropic functions as a transcription factor. Patients with germline monoallelic dominant negative or hypermorphic STAT3 variants, who present with immunodeficiency and/or immune dysregulation, have revealed the importance of balanced STAT3 signaling in lymphocyte differentiation and function, and immune homeostasis. Here, we report a novel missense variant of unknown significance in the DNA binding domain of STAT3 in a patient who experienced hypogammaglobulinemia, lymphadenopathy, hepatosplenomegaly, immune thrombocytopenia, eczema and enteropathy over a 35-year period.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!