Phagocyte Disorders

Question 1

What type of cell line is affected by Kostmann syndrome? What is the deficiency? What other clinical features might it have? Inheritance?

Answer 1

Neutrophils are low. AR. Seizures, LD, developmental delay.

Question 2

What two conditions can be caused by defects in neutrophil elastase? What is the inheritance pattern?

Answer 2

Severe chronic neutropenia
Cyclic neutropenia
AD

Question 3

LAD Type 1 is very rare. What is the CD marker defect? Is this a leukopenic or leukophilic condition?

Answer 3

CD18

Neutrophilic because you make excess neutropils. But they can’t get to the infection.

Question 4

Which immunodeficiency is associated with the Bombay blood type? What is the defect in this condition?

Answer 4

LAD Type 2

Fucosylation of sialyl lewis moiety

Question 5

Which immunodeficiency is associated with delayed teeth eruption? What are some other features of this condition?

Answer 5

Job syndrome

Asymmetric face, broad nose, prominent forehead, triangular jaw. Pneumoatoceles. Joint hyperextensibility.

Question 6

What is Chediak Higashi? Inheritance pattern?

Answer 6

A phagocyte defect due to impaired lysosome degranulation. AR

Question 7

True or false? Once treated with BMT, Chediak Higashi patients will still likely develop peripheral neuropathy.

Answer 7

True.

Question 8

On peripheral smear, a patient’s phagocytic cells have GIANT GRANULES. What immunodeficiency is likely present?

Answer 8

Chediak Higashi.

Question 9

Burkholderia infections should make you think of which two conditions?

Answer 9

CF

Chronic granulomatous disease

Question 10

What is the inheritance pattern of Chronic granulomatous disease?

Answer 10

X-linked

Question 11

Which immunodeficiency is due to a lack of primary and secondary granules?

Answer 11

Specific granule deficiency

Question 12

Which immunodeficiency is associated with partial oculocutaneous albinism?

Answer 12

Chediak-Higashi