Question:medium

Defect on genes encoding complement system components as CFH, C2, C3 and CFB causes which of the following disorder?

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Complement dysregulation due to CFH, C2, C3, and CFB mutations is most strongly linked to age-related macular degeneration.
Updated On: Feb 19, 2026
  • MBL deficiency
  • Age-related macular degeneration
  • Paroxysmal nocturnal haemoglobinuria
  • Hereditary angioedema
Show Solution

The Correct Option is B

Solution and Explanation

Step 1: Role of the complement system.
The complement system is a crucial component of innate immunity. Genes such as CFH (complement factor H), C2, C3, and CFB are responsible for regulating complement activation. Aberrations or variations in these genes disrupt regulation, increasing susceptibility to chronic inflammatory conditions.
Step 2: Disease linkage.
- Alterations in CFH, C2, C3, and CFB are strongly linked to age-related macular degeneration (AMD).
- This association arises from aberrant complement activation, which results in chronic inflammation and the accumulation of drusen within the retina.
Step 3: Exclusion of alternative possibilities.
- (A) MBL deficiency: This condition involves the MBL2 gene, not CFH, C2, C3, or CFB.
- (C) Paroxysmal nocturnal haemoglobinuria: This is caused by a defect in the PIGA gene, affecting GPI-anchor proteins.
- (D) Hereditary angioedema: This condition stems from a deficiency in C1 esterase inhibitor, independent of CFH or C3.
Final Answer:
\[ \boxed{\text{Age-related macular degeneration}} \]
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