APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

Purpose of review The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmune regulator (AIRE) gene expression in central and peripheral tolerance, and the implications of its impairment in the genetic and pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) manifestations with insight into possible treatment options. Recent findings AIRE gene expression has an important role of central and peripheral tolerance. Different AIRE gene mutations cause APECED, whereas polymorphisms and some variants may be implicated in development of other more frequently autoimmune diseases. Impaired negative T cell selection, reduction of T regulatory function, altered germinal center response, activated B cells and production of autoantibodies explain the development of autoimmunity in APECED. Recent data suggest that an excessive interferon-γ response may be the primer driver of the associated organ damage. Therefore, Janus kinase (JAK)-inhibitors may be promising therapies for treatment of broad spectrum of manifestations. Summary AIRE has a pivotal role in immune tolerance. Disruption of this delicate equilibrium results in complex immune perturbation, ranging from severe autoimmunity, like APECED, to more common organ-specific disorders. Therefore, a deeper understanding of the correlation between AIRE function and clinical phenotype is warranted given the potential translational implication in clinical practice.

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Oral Diseases as a Manifestation of Inborn Errors of Immunity

Napiórkowska-Baran,

Darwish,

Kaczor

et al. 2024

JCM

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Oral findings such as inflammation, ulcerations, or lesions can indicate serious systemic diseases and should prompt suspicion of acquired chronic conditions or inborn errors of immunity (IEIs). Currently, there are approximately 500 disease entities classified as IEIs, with the list expanding annually. The awareness of the existence of such conditions is of paramount importance, as patients with these disorders frequently necessitate the utilization of enhanced diagnostic techniques. This is exemplified by patients with impaired antibody production, in whom conventional serological methods may prove to be undiagnostic. Patients with IEI may require distinct therapeutic approaches or antimicrobial prophylaxis throughout their lives. An accurate diagnosis and, more importantly, early identification of patients with immune deficiencies is crucial to ensure the quality and longevity of their lives. It is important to note that the failure to establish a proper diagnosis or to provide adequate treatment could also have legal implications for medical professionals. The article presents IEIs, which may manifest in the oral cavity, and their diagnosis alongside therapeutic procedures.

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APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

Cited by 3 publications

References 145 publications

Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective

Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective

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Oral Diseases as a Manifestation of Inborn Errors of Immunity

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