Primary Immunodeficiencies (PIDs) encompass agroup of over 450 rare, mostly monogenic disorders, characterized by defects inthe immune system.
These conditions typically result in increasedsusceptibility to infections, immune dysregulation (such as autoimmunity), andmalignancies. Conditions such as Severe combined immunodeficiency, primaryantibody deficiency, hemophagocytic lymphohistiocytosis, and chronicgranulomatous disease fall under this category. Patients with PIDs may presentwith recurrent, severe, or unusual infections that are often resistant tostandard treatments. Diagnosis often involves immunophenotyping, functionalassays, and genetic testing to identify the specific immune defect. Treatmentstrategies vary based on the underlying defect and may include immunoglobulinreplacement therapy, hematopoietic stem cell transplantation, gene therapy, andtargeted biological agents. Early diagnosis and appropriate management arecrucial to improve the quality of life and prognosis of affected individuals.Given their complexity and rarity, these diseases often require specializedcare and ongoing monitoring.
