CHRONIC GRANULOMATOUS DISEASE (NADPH defect)

Question 1

Defective phagocytic NADPH oxidase that results in:

Answer 1

-Defective reactive oxygen species → impaired ability to deactivate or kill ingested microorganisms
-Decreased respiratory burst

Question 2

What happens to the phagocytes that escape the phagolysosome?

Answer 2

They became surrounded by other lymphocytes in order to stop them from spreading, forming granulomas

Question 3

Most common form of mutation, which gene

Answer 3

-X linked CGD (65%)
-CYBB gene

Question 4

Which pathogens are harder to kill in this disease

Answer 4

-Catalase + microorganisms
- S.aureus, Nocardia, E.coli, Candida, Klebsiella, Aspergillus, Serratia

Question 5

What does Catalase do?

Answer 5

Breaks down H2O2 into H2O and O2, no respiratory burst

Question 6

Clinical manifestations

Answer 6

• Mostly males
  -Liver and skin abscesses (staphylococcus)
  -Pneumonia
  -Osteomyelitis

Question 7

Diagnosis

Answer 7

**-Dihydrorhodamine assay
**
-Nitroblue tetrazolium assay

Question 8

Treatment

Answer 8

Bone marrow transplantation