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Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency

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Archivum Immunologiae et Therapiae Experimentalis Aims and scope

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.

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Acknowledgments

This research was supported by the National Institute for Health Research Rare Disease Translational Research Collaboration (NIHR RD-TRC). The views expressed are these of the author(s) and not necessarily those of the NHS, the NIHR, or the Department of Health.

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  1. Department of Immunology, MP8, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, Hampshire, SO16 6YD, UK

    William Rae

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Rae, W. Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency. Arch. Immunol. Ther. Exp. 65, 101–110 (2017). https://doi.org/10.1007/s00005-016-0414-x

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