Granulocyte Disorders

Question 1

Chronic Granulomatous Disease (CGD)

Answer 1

Caused by mutation in the NADPH oxidase gene
Catalase negative bacteria stil die, catalase positive bacteria won’t
Macrophages and neutrophils will eventually form large walled of granulomas in an effort to isolate the infection

Question 2

Chediak-Higashi Syndrome

Answer 2

Autosomal recessive disorder
Abnormal fusion of primary and secondary granules in the neutrophil prevents the use of granules in killing phagocytosed bacteria

Question 3

Myeloperoxidase Deficiency

Answer 3

Relatively benign, lack of myeloperoxidase

Neutrophils can still kill bacteria, just slower through the independent pathway

Question 4

May-Hegglin Anomaly

Answer 4

Rare autosomal dominant disorder
Neutrophils have Dohle bodies
Large platelets and platelet count tends to be low

Question 5

Alder-Reilly Anomaly

Answer 5

Rare inherited disorders with large purple granules found in WBCs
Does not cause defects in WBC function
Hunter and Hurler’s syndrome
Unable to fully degrade mucopolysaccharides in the lysosomes
Patient symptoms include dwarfism and gargoylism

Question 6

Pelger-Huet Anomaly

Answer 6

Autosomal dominant disorder
Characterized by bi or mono lobed neutrophils
Heterozygous have bi
Homozygous have mono
90% of neutrophils will have two lobes or less on the peripheral blood smear
No symptoms or defects in granulocyte function