DEFB126
DEFICIENCY OF FACTOR B SUBUNIT OF THE ALTERNATIVE COMPLEMENT PATHWAY (DEFICIENCY OF FB)
Description:
DEFICIENCY of FACTOR B SUBUNIT of the ALTERNATIVE COMPLEMENT PATHWAY (DEF B) is a rare genetic disorder characterized by impaired function of the alternative complement pathway, a part of the immune system that helps the body fight infections. In healthy individuals, the alternative complement pathway is activated when specific molecules on the surface of microorganisms are recognized by the immune system. This recognition triggers a cascade of reactions that ultimately lead to the destruction of the invading microorganisms. In DEF B deficiency, the absence or reduced activity of factor B, a crucial protein in the alternative complement pathway, prevents this cascade from being properly initiated, leading to an increased susceptibility to infections.
Associated Diseases:
DEF B deficiency has been primarily associated with an increased risk of developing recurrent and severe infections, particularly those caused by encapsulated bacteria such as Neisseria meningitidis (meningococcus), Streptococcus pneumoniae (pneumococcus), and Haemophilus influenzae type b (Hib). These infections can manifest as meningitis, sepsis, pneumonia, and other life-threatening conditions. Additionally, DEF B deficiency has been linked to an increased risk of autoimmune diseases, such as systemic lupus erythematosus (SLE), and certain types of vasculitis.
Did you Know ?
According to the National Institutes of Health (NIH), DEF B deficiency affects approximately 1 in 300,000 individuals worldwide. However, this number may be underestimated due to the fact that many individuals with the condition may be asymptomatic or experience only mild infections.
