14) Non-malignant granulocyte & monocyte disorders

Question 1

monolobed (homozygous) or bilobed (heterozygous) neutrophils

Answer 1

Pelger-Huet

Question 2

significant of Pelger Huet

Answer 2

differentiating from a left shift

Question 3

How can monolobed Pelger Huet be distinguished from myelos?

Answer 3

• clumped chromatin
• mature looking cytoplasm
• most/all neutrophils have anomaly

Question 4

2 causes of pseudo-Pelger Huet

Answer 4

• myeloid malignancies
• myeloproliferative/dysplastic states

Question 5

traits of pseudo-Pelger Huet cells

Answer 5

• mostly monolobed
• often hypogranular
• <50% are hyposegmented
• immature myeloids present too

Question 6

inherited lysosomal storage disorder
incompletely degraded mucopolysaccharides in lysosomes

Answer 6

Alder-Reilly anomaly

Question 7

large purple granules present in all WBCs

Answer 7

Alder-Reilly anomaly

Question 8

Alder Reilly granules stain with ———, but toxic gran will not

Answer 8

toluidine blue

Question 9

Alder-Reilly cells often found only in…

Answer 9

BM

Question 10

Gasser’s cells

Answer 10

• clusters of purple granules surrounded by clear zone
• in lymphs
• Alder-Reilly

Question 11

large, grayish-blue granules
result from fusion of primary & secondary granules

Answer 11

Chediak-Higashi syndrome

Question 12

granules are prevented from getting into lysosomes

Answer 12

Chediak-Higashi syndrome

Question 13

Chediak-Higashi cells are often ——– and ———-; less often they are ———–

Answer 13

grans and monos

lymphs

Question 14

defective chemotaxis, phagocytosis
↓ WBC and plt

Answer 14

Chediak-Higashi syndrome

Question 15

often fatal in childhood due to recurrent bacterial infections

Answer 15

Chediak-Higashi syndrome

Question 16

platelets lack large granules, function abnormally

Answer 16

Chediak-Higashi syndrome

Question 17

physical signs of Chediak Higashi syndrome

Answer 17

• skin hypopigmentation
• silvery hair
• photophobia
• lymphadenopathy

Question 18

grans contain inclusions that resemble Dohle bodies
made of RNA from the RER

Answer 18

May-Hegglin anomaly

Question 19

giant platelets
mild thrombocytopenia

Answer 19

May-Hegglin anomaly

Question 20

only symptom May-Hegglin patients may have

Answer 20

bleeding tendency

Question 21

in lymphs, usually one big granule

Answer 21

Chediak-Higashi syndrome

Question 22

defect of mechanism to catabolize membrane lipids

Answer 22

seondary histiocytosis

Question 23

examples of hereditary lack of lysosomal enzyme needed for hydrolysis of one of the glycosidic bonds

Secondary histiocytosis

Answer 23

• Gaucher disease
• Neiman-Pick
• Misc lysosomal storage diseases

Question 24

Neutrophils & macros lack microbicial activity due to defect in respiratory burt oxidase system, and cannot generate H2O2

Answer 24

chronic granulomatous disease (CGD)

Question 25

neutrophils can engulf bacteria and appear normal, but cat+ organisms can't be killed

Answer 25

CGD

Question 26

recurrent infections with opportunistic pathogens, often life-threatening

Answer 26

CGD

Question 27

granulomas in the BM

Answer 27

CGD

Question 28

dx of CGD

Answer 28

- nitroblue tetrazolium test (NBT) - flow cytometry (neutrophil oxidative burst assay) - cytogenetics

Question 29

explain nitroblue tetrazolium test

Answer 29

- neutros mixed with NBT & microbes - normal neutros will phagocytize and generate O2 metabolites, turning NBT blue - if there is no resp burst, no color change

Question 30

product of CGD flow cytometry neutrophil oxidative burst assay

Answer 30

fluorescent rhodamine

Question 31

-------- NBT = ---------- for CGD

Answer 31

positive negative

Question 32

2 forms of leukocyte adhesion deficiency

Answer 32

LAD I LAD II

Question 33

↓ or absent cell surface adhesion proteins

Answer 33

LAD I

Question 34

VECs lack ligand for L-selectin, so neutrophil cannot attach to endothelium and enter tissue

Answer 34

LAD II

Question 35

dx for LAD I and II

Answer 35

flow

Question 36

Gaucher sx

Answer 36

- pathological fracture; collapsed vertebrae; bone pain and crises; E-flask deformity; osteonecrosis; BM infiltration; osteopenia - hepatomegaly; splenomegaly - thrombocytopenia - anemia

Question 37

deficiency of glucocerebrosidase

Answer 37

Gaucher

Question 38

in Gaucher, the lipid ---------- accumulates in the macrophages

Answer 38

glucocerebroside

Question 39

large macrophages small eccentric nuclei wrinkled or striated cytoplasm

Answer 39

Gaucher disease

Question 40

similar cells to Gaucher seen in...

Answer 40

rapid gran turnover (CML)

Question 41

often fatal by 3 years

Answer 41

Neimann-Pick

Question 42

2 types of Neimann-Pick

Answer 42

Type A & B

Question 43

deficiency of sphingomyelinase

Answer 43

Neimann-Pick

Question 44

in Neimann-Pick, the lipid ----------- accumulates in the macrophages

Answer 44

sphingomyelin

Question 45

large macrophages eccentric nuclei globular cytoplasmic inclusions "Foam cells"

Answer 45

Neimann-Pick

Question 46

Foam cells

Answer 46

Neimann-Pick

Question 47

2 types of mucopolysaccharidosis

Answer 47

Hunter's Hurler's

Question 48

blue staining macrophages in BM, liver, spleen

Answer 48

sea-blue histiocytosis syndrome

Question 49

large macrophages dense eccentric nucleus blue or blue-green granules

Answer 49

sea-blue histiocytosis syndrome

Question 50

sea-blue histiocytosis is mostly...

Answer 50

benign