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Primary Immunodeficiency Disorders and Autoimmunity
Primary immunodeficiency disorders (PIDs) patients can develop an immune dysregulation of variable degree, which is responsible for a clinical picture featured by infectious complications and autoimmunity. Autoimmune manifestations are observed with considerable frequency in patients with primary antibody deficiencies, including common variable immunodeficiency (CVID) and selective IgA deficiency (sIgAD), but can also be evidenced in patients with combined immunodeficiency disorders (CID).
In recent years, the association between primary immunodeficiency disorders (PIDs) and autoimmunity has been extensively studied. Notably, autoimmunity can represent the presentation sign of PIDs in a significant number of patients . The molecular mechanisms responsible for the immune dysregulation in patients with PIDs are multiple and not completely elucidated; impaired B cell differentiation and germ-center reactions, altered T cell central or peripheral tolerance, uncontrolled lymphocyte proliferation and differentiation, dysfunctional complement, and innate immune activation can participate in the complex pathogenic process leading to autoimmunity. In patients with PIDs, the association with autoimmunity leads to a significant impact on the quality of life, higher medicalization, and increased mortality . Furthermore, the increasing use of new sequencing techniques allowed the identification of different monogenic causes of PID, the better understanding of genotype-phenotype correlations, and the improvement of the therapeutic strategies targeting the immune dysregulation in PIDs .
2. Clinical implications
2.1. Diagnosing PIDs in Children Presenting with Autoimmunity
2.2. Diagnosing Autoimmunity in Children with PIDs
This entry is adapted from 10.3390/jcm10204729
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