immunodefektioihin

Immunodeficiency refers to a group of disorders in which part of the immune system is either absent or does not function properly. Individuals with immunodeficiency are more susceptible to infections, autoimmune reactions, and certain cancers. The term can describe primary conditions, which arise from genetic or developmental defects, or secondary conditions, which develop due to external factors such as medications, malnutrition, or chronic diseases.

Primary immunodeficiencies are caused by inherited mutations that impair the production or function of immune cells or molecules. They are classified into antibody deficiencies, combined immune deficiencies, phagocytic defects, and syndromic immunodeficiencies, among others. X‑linked agammaglobulinemia, severe combined immunodeficiency (SCID), and DiGeorge syndrome are well‑known examples. Secondary immunodeficiencies result from life‑style factors like HIV infection, chemotherapy, immunosuppressive drugs, or chronic illnesses such as diabetes.

Diagnosis typically involves detailed patient history, physical examination, and laboratory tests. Blood tests may evaluate white blood cell counts, immunoglobulin levels, lymphocyte subsets, and functional assays. Genetic testing can identify specific mutations that explain the condition. Management strategies depend on the underlying cause and include antimicrobial prophylaxis, immunoglobulin replacement therapy, and, in severe cases, bone marrow transplantation. Advances in gene therapy have shown promise for certain inherited immunodeficiencies, offering potential curative options.

Public health strategies for immunodeficiency focus on early detection, prevention of infections through vaccination where possible, and education of patients and caregivers about infection control practices. Ongoing research seeks to improve diagnostic accuracy, refine therapies, and understand the long‑term effects of immune system dysregulation.