The following is a summary of “Inborn Errors of Immunity and Autoimmune Disease,” published in the June 2023 issue of Allergy and Clinical Immunology by Gray et al.
Autoimmunity may manifest inborn errors of immunity, specifically as a subgroup of primary immunodeficiency referred to as primary immune regulatory disorders. Even though a single gene diagnosis can have significant implications for prognosis and treatment, selecting patients for screening can be challenging due to the population’s high prevalence of autoimmune disease. This review compares the genetics of common polygenic and rare monogenic autoimmunity.
It investigates the molecular mechanisms, phenotypes, and inheritance of autoimmunity associated with primary immune regulatory disorders, highlighting the increasing significance of gain-of-function and non-germline somatic mutations. A novel framework is presented for identifying rare monogenic cases of common diseases in children, emphasizing important clinical and immunologic features that favor single-gene disease and guiding clinicians in selecting suitable patients for genomic screening.
In addition, there will be a discussion of autoimmunity in non-genetically defined primary immunodeficiencies, such as common variable immunodeficiency, as well as instances in which primary autoimmunity can manifest in clinical phenocopies of inherited immune deficiencies.
Source: sciencedirect.com/science/article/abs/pii/S2213219823004580