Question:
Defect on genes encoding complement system components as CFH, C2, C3 and CFB causes which of the following disorder?
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: Sep 26, 2025
- MBL deficiency
- Age-related macular degeneration
- Paroxysmal nocturnal haemoglobinuria
- Hereditary angioedema
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The Correct Option is B
Solution and Explanation
Step 1: Role of complement system.
The complement system is an essential part of innate immunity. Genes like CFH (complement factor H), C2, C3, and CFB regulate complement activation. Mutations or polymorphisms in these genes disturb regulation and predispose to chronic inflammatory conditions.
Step 2: Disease association.
- Mutations in CFH, C2, C3, and CFB are strongly associated with age-related macular degeneration (AMD).
- This is because abnormal complement activation leads to chronic inflammation and deposition of drusen in the retina.
Step 3: Eliminating other options.
- (A) MBL deficiency: Involves MBL2 gene, not CFH, C2, C3, or CFB.
- (C) Paroxysmal nocturnal haemoglobinuria: Caused by PIGA gene defect affecting GPI-anchor proteins.
- (D) Hereditary angioedema: Caused by C1 esterase inhibitor deficiency, not by CFH or C3.
Final Answer:
\[ \boxed{\text{Age-related macular degeneration}} \]
The complement system is an essential part of innate immunity. Genes like CFH (complement factor H), C2, C3, and CFB regulate complement activation. Mutations or polymorphisms in these genes disturb regulation and predispose to chronic inflammatory conditions.
Step 2: Disease association.
- Mutations in CFH, C2, C3, and CFB are strongly associated with age-related macular degeneration (AMD).
- This is because abnormal complement activation leads to chronic inflammation and deposition of drusen in the retina.
Step 3: Eliminating other options.
- (A) MBL deficiency: Involves MBL2 gene, not CFH, C2, C3, or CFB.
- (C) Paroxysmal nocturnal haemoglobinuria: Caused by PIGA gene defect affecting GPI-anchor proteins.
- (D) Hereditary angioedema: Caused by C1 esterase inhibitor deficiency, not by CFH or C3.
Final Answer:
\[ \boxed{\text{Age-related macular degeneration}} \]
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