A comprehensive overview of various primary immunodeficiency diseases and autoimmune disorders, using detailed clinical case studies to illustrate complex immunological concepts. The sources explain the pathogenesis of several genetic defects, such as X-linked agammaglobulinemia, CD40 ligand deficiency, and severe combined immunodeficiency (SCID), often relating the genetic mutation (e.g., in IL2RG or perforin) to the resulting clinical phenotype. Furthermore, the text examines mechanisms of immune dysregulation in conditions like rheumatoid arthritis, systemic lupus erythematosus, and hereditary angioedema, describing the roles of T cells, B cells, autoantibodies, and the complement system. Finally, the material describes diagnostic techniques like flow cytometry and the mixed leukocyte reaction, alongside various therapeutic strategies, including bone marrow transplantation and anti-cytokine biological drugs.
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