SNP Shot: Genomic Insights

Complement component 2 deficiency is an immune system disorder leading to immunodeficiency. This means the body's defense system is weakened, making it harder to fight off infections from bacteria and viruses. Individuals with this deficiency are at a higher risk of recurring bacterial infections, including pneumonia (lung infection), meningitis (inflammation of the brain and spinal cord membranes), and sepsis (blood infection). These infections are more common in infants and children but tend to decrease in frequency during adolescence and adulthood.

This deficiency also raises the risk of autoimmune diseases, such as systemic lupus erythematosus (SLE) and vasculitis. These diseases occur when the immune system mistakenly attacks the body's own tissues. About 10-20% of individuals with complement component 2 deficiency will develop SLE. Similar to the general population, women with this deficiency are more prone to SLE than men.

The impact of complement component 2 deficiency varies greatly. Some individuals suffer from frequent infections and other immune-related problems, while others experience no related health issues.

Inheritance:

Complement component 2 deficiency follows an autosomal recessive inheritance pattern. This means a person must inherit a mutated copy of the relevant gene from each parent to develop the condition. The parents, carrying only one copy of the mutated gene, usually do not exhibit any signs or symptoms of the deficiency.