Phagocyte Immune Dysfunction Disorders

Question 1

What is the defect in Leukocyte Adhesion Deficiency (Type I)?

Answer 1

CD18 Protein (LFA-1 Integrin) on phagocytes

Question 2

How would a patient with Leukocyte Adhesion Deficiency (Type I) present?

Answer 2

Recurrent bacterial infections
Absent pus formation
Delayed separation of umbilical cord

Question 3

What lab findings would you see in Leukocyte Adhesion Deficiency (Type I)?

Answer 3

Neutrophilia

Question 4

What is the defect in Chediak-Higashi syndrome?

Answer 4

Defect in Lysosomal Trafficking Regulator (LYST) gene causing microtubule dysfunction in lysosome fusion

Question 5

How would a patient with Chediak-Higashi syndrome present?

Answer 5

Recurrent staph/strep pyogenic infections
Albinism
Peripheral neuropathy

Question 6

What lab findings would you see in Chediak-Higashi syndrome?

Answer 6

Giant granules in NEU

Question 7

What is the defect in Chronic Granulomatous disease?

Answer 7

Lack of NADPH Oxidase causes decreased reactive oxygen species and respiratory burst in NEU

Question 8

How would a patient with Chronic Granulomatous disease present?

Answer 8

Increased susceptibility to Catalase + Organisms (Staph aureus, E. Coli, Aspergillus)

Question 9

What lab findings would you see in Chronic Granulomatous disease?

Answer 9

Abnormal Dihydrorhodamine Flow cytometry Test

NBT dye test (-)