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Immune Dysregulation Leading to Autoimmunity

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Primary and Secondary Immunodeficiency

Abstract

The immune system is a delicate equilibrium of checks and balances. Defects in different aspects of the immune system can disrupt this balance and cause immune dysregulation and autoimmunity. These flaws in immunity can be caused by defects in central tolerance, peripheral tolerance, apoptosis, and natural killer cells. There are an increasing number of monogenic immunodeficiency disorders that lead to immune dysregulation, now called primary immune regulatory disorders (PIRD). This chapter will discuss the normal underlying pathophysiology of the immune system and how defects in immunity can lead to immune dysregulation. Two cases of patients with PIRD will be presented. These cases demonstrate that patients presenting with early onset, refractory, or unusual presentations of autoimmune disease should be evaluated for primary immunodeficiencies and PIRD. The differential diagnosis of patients with signs of immune dysregulation in addition to workup and potential treatments will be described. Immune dysregulation is a growing field of immunology and this chapter will highlight the latest knowledge in this expanding subject.

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  1. Children’s Hospital at Montefiore, Division of Allergy and Immunology, Montefiore Medicial Center, Bronx, NY, USA

    Melissa D. Gans & Rachel Eisenberg

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  1. Melissa D. Gans
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  2. Rachel Eisenberg
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    Jonathan A. Bernstein

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Gans, M.D., Eisenberg, R. (2021). Immune Dysregulation Leading to Autoimmunity. In: Bernstein, J.A. (eds) Primary and Secondary Immunodeficiency. Springer, Cham. https://doi.org/10.1007/978-3-030-57157-3_14

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