Abstract
Primary immunodeficiency diseases (PIDs) and autoinflammatory disorders present major challenges in clinical medicine due to their complexity and varied symptoms. PIDs heighten the risk of infections, autoinflammatory conditions, allergies, and cancers, impacting approximately six million people worldwide. This article reviews recent developments in the understanding and management of antibody deficiencies particularly Common Variable Immunodeficiency (CVID), which is a condition caused by genetic abnormalities especially those involving the NFKB2 gene. Clinical cases highlight the challenges in managing CVID and underscore the necessity of targeted treatments, such as rituximab, for cases that do not respond to standard therapies. Autoinflammatory diseases characterized by episodes of unprovoked inflammation are also explored, with a focus on monogenic disorders such as Cryopyrin-Associated Periodic Syndromes (CAPS) and Familial Mediterranean Fever (FMF). Advances in targeted therapies particularly IL-1 inhibitors, have shown significant promise in managing the conditions, reducing the frequency of flare-ups, and improving quality of life. This article concluded by emphasizing the need for ongoing research into the pathophysiology of these disorders, creating novel biomarkers for early identification, and international collaboration to enhance patient care and outcomes.
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