section 12

Question 1

describe/explain the mechanism causing Pelger-Huet

Answer 1

hyposegmented PMNs (pins-nez or stodtmeister)

Question 2

describe/explain the mechanism causing Alder-Reilly

Answer 2

prominent red-purple granules in all WBCs that look like toxic granulation

caused by deficicy in enzymes to break down mucopolysaccharides

seen in hurlers

Question 3

describe/explain the mechanism causing May-Hegglin

Answer 3

dohle bodies and abnormal PLTs

caused by precipitated myosin heavy chians that stain blue

rare autosomal dominant condition

Question 4

describe/explain the mechanism causing Chronic Granulomatous disease

Answer 4

deficiency in phagocyte killing abelites to due ineffective OX burst causing bacterial build up

defect in NADPH oxidase

Question 5

describe/explain the mechanism causing Leukocyte Adhesion Disorder

Answer 5

inability to adhere to cells and migrate from blood to tissue

gene mutation

Question 6

describe/explain the mechanism causing Chediak-Higashi

Answer 6

giant, defective lysosome granules in most cells and decreased PLTs

rare autosomal recessive disorders

Question 7

describe/explain the mechanism causing Lazy Leukocyte Syndrome

Answer 7

poor directional and random movement caused by impaired reaction to chemotaxins

Question 8

describe/explain the mechanism causing MPO

Answer 8

deficiency in enzymes forming killing complex causing longer killing time

caused by gene mutations

Question 9

describe/explain the mechanism causing Diabetes Mellitus associated dysfunction

Answer 9

high glucose lvls resulting in abnormal OX burst

Question 10

what are the general clinical manifestations, deficiency and description of Gaucher’s disease

Answer 10

• inability to degrade glucocerebroside causing lipid buildup in cells
• deficient in beta-glucocerebrosidase
• silk like monos that are too large

Question 11

what are the general clinical manifestations, deficiency and description of Niemann Pick disease

Answer 11

• inability to degrade sphingomyelin leading to build up of cells in spleen, liver, lungs and brain
• deficiency in sphingomyelinase
• foamy cells

Question 12

what are the general clinical manifestations, deficiency and description of Tay-Sachs disease

Answer 12

• accumulation of unmetabolized ganglioside
• deficiency in hexosaminidase A
• vacuolated lymphs