CIS Session

Question 1

Lab techniques to evaluate phagocytic function

Answer 1

CBC + Diff
Functional assessment of respiratory burst
Functional assessment of phagocytosis, chemotaxis, bactericidal activity.

Question 2

Clinical presentationd of chronic granulomatous disease:

Answer 2

Frequent abscesses
Delayed healing
Staph aureas infections
Histology of granulomas

Question 3

2 types of GCD

Answer 3

X-linked (2/3 of cases)
Autosomal recessive (1/3 of cases)

Question 4

What is the biochemical cause of CGD?

Answer 4

Enzymatic deficiency of NADPH, resulting in a failure to generate superoxide anion and O2 radicals. This inhibits the cell’s ability to eliminate EC pathogens.

Question 5

Patients with CGD are susceptible to:

Answer 5

Recurrent pyogenic infection with catalase-positive organisms.

Question 6

Patient’s sample w/ chronic CGD in NBT test

Answer 6

Neutrophils do not reduce NBT.
No dark blue crystals.
Carrier state is mixed with normal and affected state.

Question 7

CGD is what kind of disease?

Answer 7

Phagocytic d/o.

Most common phagocytic immunodeficiency.

Question 8

Pt’s w/ CGD have an increase of what type of infections?

Answer 8

Bacterial and fungal.

Normal response to viruses.

Question 9

Why is there granuloma formation?

Answer 9

Persistent neutrophil accumulation due to a failure to degrade chemoattractants, This leads to persistent cell-mediated immune activation and gtanuloma formation.

Question 10

Where do granulomas form?

Answer 10

Skin, GI, GU tracts.

Question 11

LAD results in (2):

Answer 11

Inability to form pus and recurrent infections.

Question 12

LAD-1 is caused by:

Answer 12

Mutations in the gene for B2 integrins (AKA CD18) leading to a decrease of these on circulating lymphocytes.

Question 13

Hallmarks of LAD-1 (5):

Answer 13

1. Delayed separation of the umbilical cord
2. Omphalitis
3. Severe recurrent infections w/o pus
4. High WBC ct.
5. Skin ulcers and gingivitis.

Question 14

Flow cytometry shows:

Answer 14

The absence of CD18/B2 integrins.

Question 15

Neutrophil count in LAD

Answer 15

2x normal

Neutrophils unable to aggregate.

Question 16

2 phenotypes of LAD

Answer 16

Severe: <2% of normal surface expression. Very frequent infections and often leads to death w/o hematopoietic cell transplant.
Mild-to-moderate Fewer infections and able to survive.

Question 17

Infections in LAD are usually:

Answer 17

From staph aureus or gram negative bacilli.

No increase in viral infections.

Question 18

Response of IL-23/IL-17 in LAD-1

Answer 18

Pt’s inhibition of IL-23/IL-17 is poor, resulting in unregulated hyperinflammation.