DEFECTIVE RESPIRATORY BURST

Question 1

Can be X-linked recessive (60%) or autosomal recessive (40%)

Answer 1

CHRONIC GRANULOMATOUS DISEASE (CGD)

Question 2

decreased ability of neutrophils to undergo a respiratory burst

Answer 2

CHRONIC GRANULOMATOUS DISEASE (CGD)

Question 3

Chemiluminescense→

Answer 3

→ uses dihydrorhodamine to measure intracellular production of reactive oxygen species

Question 4

-NBT is a yellow, water-soluble dye -Normal: REDUCED NBT because of the generation of respiratory burst (+BLUE FORMAZAN) -PATIENTS WITH CGD: UNREDUCED
colorless-yellow

Answer 4

Nitroblue tetrazolium (NBT) test

Question 5

carriers have half the normal C3 activity (adequate for disease resistance)

Answer 5

CONGENITAL C3 DEFICIENCY (hetero)

Question 6

failure of opsonisation by C3

Answer 6

CONGENITAL C3 DEFICIENCY (homo)

Question 7

Absence affect the: HEXOSE MONOPHOSPHATE SHUNT

Answer 7

G-6PD DEFICIENCY

Question 8

is needed for the production of NADPH oxidase

Answer 8

G-6PD DEFICIENCY

Question 9

MPO is low or absent in neutrophils and monocytes but not in eosinophils -Absence of MPO slows down bactericidal killing

Answer 9

MYELOPEROXIDASE (MPO) DEFICIENCY/ ALIUS-GRIGNASHI ANOMALY