Flashcards in Phagocyte Disorders Deck (12)
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.
What two conditions can be caused by defects in neutrophil elastase? What is the inheritance pattern?
Severe chronic neutropenia
LAD Type 1 is very rare. What is the CD marker defect? Is this a leukopenic or leukophilic condition?
Neutrophilic because you make excess neutropils. But they can't get to the infection.
Which immunodeficiency is associated with the Bombay blood type? What is the defect in this condition?
LAD Type 2
Fucosylation of sialyl lewis moiety
Which immunodeficiency is associated with delayed teeth eruption? What are some other features of this condition?
Asymmetric face, broad nose, prominent forehead, triangular jaw. Pneumoatoceles. Joint hyperextensibility.
What is Chediak Higashi? Inheritance pattern?
A phagocyte defect due to impaired lysosome degranulation. AR
True or false? Once treated with BMT, Chediak Higashi patients will still likely develop peripheral neuropathy.
On peripheral smear, a patient's phagocytic cells have GIANT GRANULES. What immunodeficiency is likely present?
Burkholderia infections should make you think of which two conditions?
Chronic granulomatous disease
What is the inheritance pattern of Chronic granulomatous disease?
Which immunodeficiency is due to a lack of primary and secondary granules?
Specific granule deficiency