title: Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.
abstract: Primary immunodeficiencies (PIDs) are a group of rare genetic diseases resulting in the impairment of one or more functions of the human immune system. Common variable immunodeficiency (CVID) is one of the most prevalent PIDs, yet despite extensive genetic analysis, most patients do not have a monogenetic diagnosis. This has led to the theory that CVID must be a polygenetic condition. An alternative theory to a monogenetic or polygenetic underlying cause of CVID is that it is epigenetic phenomena that are causal in the majority of CVID patients. I will briefly discuss epigenetic regulation in B-cell biology and development, current examples of epigenetic diseases causing CVID-like primary antibody deficiencies, and how these observations may guide future investigation into the role of epigenetics in CVID.
authors.affiliation: Department of Immunology, MP8, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, Hampshire, SO16 6YD, UK. will.rae@nhs.net.
authors.forename: William
authors.identifier: http://orcid.org/0000-0003-0095-2514
authors.initials: W
authors.lastname: Rae
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000818:Animals; D001402:B-Lymphocytes / Q000166:cytology; D002843:Chromatin / Q000737:chemistry; D017074:Common Variable Immunodeficiency / Q000175:diagnosis* / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics; D019175:DNA Methylation; D004268:DNA-Binding Proteins; D044127:Epigenesis, Genetic; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006657:Histones / Q000737:chemistry; D006801:Humans; D007107:Immune System; D051379:Mice; D018345:Mice, Knockout; D035683:MicroRNAs / Q000235:genetics; D010641:Phenotype; D022661:RNA, Untranslated / Q000235:genetics
chemical_list: D002843:Chromatin; D004268:DNA-Binding Proteins; D006657:Histones; C524942:MIRN155 microRNA, human; D035683:MicroRNAs; D022661:RNA, Untranslated; D000074183:ATPases Associated with Diverse Cellular Activities; D004265:DNA Helicases; C524421:INO80 protein, human
keywords: B-cell development; Common variable immunodeficiency; Epigenetics