erfðaónæmisskortsjúkdómurinn

erfðaónæmissko, also known as genetic immunodeficiency, refers to a group of disorders where the immune system is not functioning properly due to a genetic defect. These conditions make individuals more susceptible to infections that a healthy immune system would typically fight off. The severity can range from mild to life-threatening, depending on the specific genetic mutation and the part of the immune system affected.

There are over 450 identified types of primary immunodeficiency diseases (PIDs). These can affect various components of the immune system, including antibodies, T-cells, B-cells, phagocytes, or complement proteins. Symptoms often include recurrent or severe infections, such as pneumonia, ear infections, sinus infections, or skin infections. Other signs can include delayed growth and development, autoimmune disorders, or an increased risk of certain cancers.

Diagnosis typically involves a thorough medical history, physical examination, and a series of blood tests to assess immune cell counts and function. Genetic testing may also be performed to identify the specific mutation responsible for the disorder. Treatment strategies vary widely and depend on the type and severity of the PID. They can include immunoglobulin replacement therapy, prophylactic antibiotics, enzyme replacement therapy, or in some cases, stem cell transplantation. Early diagnosis and appropriate management are crucial for improving the health and quality of life for individuals with erfðaónæmissko.