SNP Shot: Genomic Insights

Complement component 8 deficiency is an immune system disorder leading to immunodeficiency. Immunodeficiency means the immune system doesn't effectively defend the body against bacteria and other foreign invaders. Individuals with this deficiency are at a higher risk of repeated bacterial infections, especially from Neisseria meningitidis. This bacterium can cause meningitis, an inflammation of the membranes around the brain and spinal cord. Although meningitis can be deadly, individuals with complement component 8 deficiency who develop it are less likely to die from it compared to the general population.

The severity of complement component 8 deficiency differs significantly from person to person. Some individuals may experience multiple infections, while others may remain asymptomatic and have no related health issues.

Complement component 8 deficiency has two types, type I and type II, distinguished by their genetic origins. However, both types present with the same symptoms and signs.

Inheritance:

The condition follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene in a person's cells must have mutations for them to develop the deficiency. Parents of a person with an autosomal recessive condition each carry one mutated copy of the gene, but usually do not exhibit any symptoms themselves.