CIS

Question 1

What is the cellular abnormality in LAD-1 (Leukocyte adhesion deficiency)?

Answer 1

Mutation in the gene for B2 integrin

CD-18 ( a cell adhesion molecule)

Question 2

What is the immune defect in a patient with LAD-1?

Answer 2

Phagocytes have a hard time migrating to infected tissues.

Question 3

What are the assx infections and diseases with LAD-1?

Answer 3

Widespread infections with capsulated bacteria.

Question 4

What is the cellular abnormality in CGD (chronic granulomatous disease)?

Answer 4

NADPH oxidase is defective; thus, phagocytes cant make O2- (superoxide)

Question 5

What is the immune defect in a patient with CGD?

Answer 5

Phagocytosed material cannot be killed.

We cannot break down shit we phagocytoze.

Question 6

What are the associated infections and diseases with CGD?

Answer 6

Chronic bacterial infections and granulomas.

Question 7

Which disease is this indicative of: neutrophils do not bind to intracellular adhesion molecules on the endothelial cells; a step necessary for them to go to the site of infection?

Answer 7

LAD

LAD; we have a deficiency of CD18 ( a cell adhesion molecule). Thus, our phagocytes cannot go to the site of infections.

Question 8

In someone with with LAD, what would their neutrophil count be even when theres no infection?

Answer 8

2x the normal level because it cannot escape the tissue,

Question 9

LAD is typically manifested by what?

Answer 9

1. Hx of recurrent infections
2. Skin ulcers
3. Gingitivis

Question 10

What are the two major types of CGD?

Answer 10

1. X-linked CGD (most-common form)

2. Autosomal recessive CGD

Question 11

CGD is a mutation in the NADPH oxidase; which subunit is the most common?

Answer 11

gp91-x-linked CGD

Question 12

What is the best lab test to confirm CDG?

Answer 12

NBT (nitrobluetetrazolium) test;

Its bomb at detecting carrier states; which will have normal and abnormal neutrophils.

Question 13

CGD forms granulomas; what is this?

Answer 13

Granulomas are masses of immune cells that form at the site of infection.

Question 14

CGD is a ________ disorder; characterized by the tendency to form granulomas.

Answer 14

PHAGOCYTIC DISORDER

Question 15

CGD is a defect in ____________ in phagocytes; resulting in a ffailure to make ________ and ________ .

Main result defective elimination of _______ pathogens; like bacteria and fungi

Answer 15

NADPH oxidase

Superoxide anion and O2 radicals

EXTRACELLULAR pathogens.

Question 16

What pathogens are CDG patients more susceptible to?

Answer 16

Catalase positive organisms like bacteria and fungus.

Ex. S. aureus (bacteria)
Ex. Aspergillus spp. (fungus).

Question 17

Do patients with CDG get recurrent infections of viruses?

Answer 17

No.

Only bacteria and fungi.

Question 18

Major cause of daeth in pt with CDG?

Answer 18

Pulmonary aspergillus.

Question 19

Why are patients with CDG more susceptible to infections from catalase positive individuals?

Answer 19

They make catalase that breaks down endogenously made H2O2.

Thus, it cannot be converted into bleach by MPO.

Question 20

Why are CDG patients not susceptible to infections by a catalase negative pathogen?

Answer 20

When a catalase negative bacteria is taken in by neutrophil, H2O2 made by the bacteria will be converted to bleach by MPO, which will kill the bacteria in the phagosum.

Question 21

In patients with CGD, why is there granuloma formation?

Answer 21

When a patient with CGD gets an infection, they often have extensive inflammatory reactions because [chemoattractants and antigens] cannot be broken down.

This leads to persistant neutrophil ACCUMULATION. If we canntot kill the microorganism; this may lead to persistant cell-mediated immune activation and granuloma formation because we keep trying to kill it.

Question 22

Granulomas typically develop where?

Answer 22

SKIN
GI tract
GU tract

Question 23

What are the molecular defects in LAD syndromes?

Answer 23

1. Recurrent infections

2. Can’t form pus

Question 24

Hall marks of LAD?

Answer 24

1. Delayed seperation of the umbilical cord
2. Omphalatis
3. Recurrent infections with no pus formation

Question 25

What is the best lab techniqye for LAD?

Answer 25

Flow cytometry- shows the absence of CD18.