komplementpuudulikkust

Komplementpuudulikkus, also known as complement deficiency, refers to a group of genetic disorders characterized by the absence or dysfunction of complement proteins. The complement system is a crucial part of the immune system, playing a vital role in the recognition and elimination of pathogens, such as bacteria and viruses. It also helps in the regulation of inflammation and tissue repair.

There are several types of complement deficiencies, each associated with a specific complement protein. The most common types include:

1. C1q deficiency: This is the most prevalent form, affecting about 1 in 100 people. C1q is a component of the classical pathway of complement activation. Individuals with C1q deficiency may experience recurrent infections, particularly with encapsulated bacteria like Streptococcus pneumoniae and Neisseria meningitidis.

2. C2 deficiency: This is a rare disorder, with only a few cases reported. C2 is another component of the classical pathway. Individuals with C2 deficiency may also experience recurrent infections and may have a higher risk of developing autoimmune diseases.

3. C3 deficiency: This is the most severe form of complement deficiency. C3 is a central component of the complement system, involved in all three pathways of complement activation. Individuals with C3 deficiency are at high risk of severe infections and may require lifelong antibiotic prophylaxis.

4. C4 deficiency: This is another rare disorder. C4 is a component of the classical pathway. Individuals with C4 deficiency may experience recurrent infections and may have an increased risk of developing autoimmune diseases.

The diagnosis of complement deficiency typically involves laboratory tests to measure the levels of specific complement proteins. Treatment options vary depending on the type and severity of the deficiency. In some cases, individuals may require lifelong antibiotic prophylaxis to prevent infections. In others, immune globulin therapy may be used to boost the immune system.