Phagocytic disorders

Question 1

What are the clinical findings of Shwachman-Diamond syndrome? (3)

Answer 1

Pancreatic exocrine insufficiency
Skeletal abnormalities
Recurrent infections

Question 2

What is the cycle of neutropenia in cyclical neutropenia?

Answer 2

Neutropenic for 3-5 days every 21 days

Question 3

What are the clinical features in cyclical neutropenia?

Answer 3

Cyclical stomatitis, oral ulcers or bacterial infections

Question 4

What is delayed separation of the umbilical cord a classic finding of? (>21days)

Answer 4

Leukocyte adhesion deficiency type 1 (LAD1)

Question 5

What type of immunodeficiency is cellulitis without pus indicative of?

Answer 5

phagocytic defects

Question 6

Which glycogen storage disorder is associated with immunodeficiency?

Answer 6

Glycogen Storage disorder type 1B is a/w neutrophil dysfunction

Question 7

What causes chronic granulomatous disease?

Answer 7

NAPDH oxidase deficiency (responsible for oxidative burst)

Question 8

How is chronic granulomatous disease inherited?

Answer 8

X-linked (60% cases)

AR (30%)

Question 9

Which primary immunodeficiency is associated with gingival hyperplasia?

Answer 9

CGD