SNP Shot: Genomic Insights

Mannose-binding lectin (MBL) deficiency is an immune system disorder characterized by reduced levels of MBL, a crucial protein, in the blood. The link between this deficiency and increased susceptibility to recurring infections remains uncertain.

Individuals with MBL deficiency may experience infections affecting the upper respiratory system and other parts of the body. More severe infections like pneumonia and meningitis are also possible. The symptoms and their intensity vary depending on the specific type of infection.

Young children and infants with MBL deficiency appear to be at a higher risk of infections compared to adults with the same condition. However, adults can also experience recurring infections. Furthermore, individuals undergoing chemotherapy or using immunosuppressant medications are particularly vulnerable to infections.

Inheritance:

The inheritance pattern of MBL deficiency is complex and not fully understood. Some studies suggest that carrying one mutated copy of the MBL2 gene in each cell can lead to the condition, while others indicate that mutations in both copies are required. Importantly, individuals inherit a higher likelihood of developing MBL deficiency, not the condition itself. Not everyone who inherits MBL2 gene mutations will ultimately develop MBL deficiency.