primary immunodeficiency diseases

Primary immunodeficiencies are a heterogeneous group of over 450 inborn errors of immunity that predispose to infection, autoimmunity, autoinflammation, and malignancy. Immunoglobulin replacement therapy is the cornerstone of management for antibody deficiencies; haematopoietic stem cell transplantation is curative for several severe forms. Gene therapy has achieved transformative outcomes in adenosine deaminase-severe combined immunodeficiency and is advancing across other genetic subtypes.