immundefekter

Immundefekter, or immune deficiencies, refer to a heterogeneous group of disorders characterized by an impaired immune system, resulting in increased susceptibility to infections, autoimmune phenomena, and sometimes malignancies. They can be primary (congenital) due to genetic defects, or secondary (acquired) due to infections, malnutrition, medical treatments, or other diseases.

Primary immune deficiencies are caused by inherited mutations affecting components of innate or adaptive immunity, including antibodies, complement, phagocytes, and T or B lymphocytes. Common examples include severe combined immunodeficiency (SCID), X-linked agammaglobulinemia, common variable immunodeficiency (CVID), and DiGeorge syndrome. Secondary immune deficiencies are more common and can arise from HIV infection, malnutrition, cancer chemotherapy, corticosteroids, autoimmune diseases, or chronic stress.

Clinical features include recurrent, unusual, or severe infections, poor growth in children, delayed separation of the umbilical cord, or autoimmune or autoinflammatory manifestations. Diagnosis involves clinical history, family history, examination, and laboratory testing: quantitative immunoglobulins, lymphocyte subsets, vaccine response, neutrophil function, and genetic testing in suspected cases.

Management focuses on preventing infections and treating them promptly. Humoral deficiencies may require immunoglobulin replacement therapy. Antimicrobial therapies are tailored to infections. For some severe primary immunodeficiencies, hematopoietic stem cell transplantation or gene therapy may be curative. Vaccination strategies are personalized.

Prognosis varies widely; most affected individuals require lifelong care. Ongoing research aims to improve newborn screening, targeted therapies, and curative approaches through gene editing and transplantation.