Complement

Question 1

Hereditary angioedema

Answer 1

Defence of C1 inhibitor

Autosomal dominant
C1 inhibitor gene (C1-INH gene = SERPING1 gene)
Chr 11

Question 2

Complement deficiency syndromes

Answer 2

Hereditary or acquired
Hereditary: AR except properdin = X-linked
Acquired: autoimmune, autoanttibodies, B-cell lymphoproliferative disorders

C2 deficiency most common

Question 3

PNH

Answer 3

= Paroxysmal Nocturnal Haemoglobinuria

Deficiency of membrane-bound complement regulatory proteins (CD59, CD55)

Recurrent episodic intravascular haemolysis

• chronic haemolytic anaemia
• BM failure (pancytopenia)
• thrombosis (venous>arterial)
• haemoglobinuria (25%)