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Flashcards in Phagocyte Disorders Deck (12):
1

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

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

2

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

Severe chronic neutropenia
Cyclic neutropenia
AD

3

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

CD18
Neutrophilic because you make excess neutropils. But they can't get to the infection.

4

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

LAD Type 2
Fucosylation of sialyl lewis moiety

5

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

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

6

What is Chediak Higashi? Inheritance pattern?

A phagocyte defect due to impaired lysosome degranulation. AR

7

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

True.

8

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

Chediak Higashi.

9

Burkholderia infections should make you think of which two conditions?

CF
Chronic granulomatous disease

10

What is the inheritance pattern of Chronic granulomatous disease?

X-linked

11

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

Specific granule deficiency

12

Which immunodeficiency is associated with partial oculocutaneous albinism?

Chediak-Higashi