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REVIEW article

Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1497921

Unmasking Inborn Errors of Immunity: identifying the red flags of immune dysregulation

Provisionally accepted
Manuela Cortesi Manuela Cortesi *Laura Dotta Laura Dotta Marco Cattalini Marco Cattalini Vassilios Lougaris Vassilios Lougaris Annarosa Soresina Annarosa Soresina Raffaele Badolato Raffaele Badolato
  • Pediatrics Clinic and Institute for Molecular Medicine “A. Nocivelli”, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy., University of Brescia, Brescia, Italy

The final, formatted version of the article will be published soon.

    Inborn errors of immunity (IEI) are rare diseases that a[ect the immune system.According to the latest International Union of Immunological Societies (IUIS) classification, 485 di[erent IEI have been identified. Even if increased susceptibility to infections is the bestknown symptom, IEI are no longer defined by the higher likelihood of infections alone. Immune dysregulation with autoimmune disease and hyperinflammation, lymphoproliferation, and malignancy are common manifestations and could be the only symptoms of IEI that must be recognised.An exclusive focus on infection-centered warning signs would miss around 25% of patients with IEI who initially present with other manifestations.Timely and appropriate diagnosis and treatment are essential to enhance the quality of life (QoL) and, in some cases, survival, as patients are susceptible to life-threatening infections or autoimmunity.In addition, the advantage of early diagnosis in IEI with immune dysregulation (i.e. CTLA4 deficiency, LRBA deficiency, NF-kB1/NF-kB2 deficiency, activated phosphoinositide 3-kinase delta syndrome -APDS-) is the initiation of targeted therapies with precise re-balancing of the dysregulated immune pathways (i.e., biologicals, selective inhibitors) or definitive therapy (i.e., HSCT).

    Keywords: inborn errors of immunity, Immune dysregulation, Autoimmunity, APDs, Warning signs

    Received: 18 Sep 2024; Accepted: 04 Dec 2024.

    Copyright: © 2024 Cortesi, Dotta, Cattalini, Lougaris, Soresina and Badolato. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Manuela Cortesi, Pediatrics Clinic and Institute for Molecular Medicine “A. Nocivelli”, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy., University of Brescia, Brescia, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.