Non-Malignant Leukocyte Disorder,

Question 1

A rare X-linked disease, caused by a mutation (400) in the WAS gene resulting to a decreased level of WASp protein

Answer 1

wiskott-aldrich syndrome

Question 2

wiskott-aldrich syndrome is characterized by mutation in

Answer 2

WAS gene

Question 3

it is important in cytoskeletal remodeling and nuclear transcription in hematopoietic stem cells

Answer 3

WASp protein

Question 4

medication therapy for thrombocytopenia in wiskott-aldrich syndrome

Answer 4

eltrombopag
romiplostim

Question 5

It includes DiGeorge Syndrome

Answer 5

22q11 deletion syndrome

Question 6

they have variable immunodeficiency because of the absence and decreased size of thymus and low number of T-lymphocytes

Answer 6

22q11 deletion syndrome

Question 7

it is classified as an antibody deficiency

Answer 7

Bruton Tyrosine Kinase Deficiency

Question 8

characterized by reduction in all serum immunoglobulin isotypes and profoundly decreased or absent of B-cells

Answer 8

Bruton Tyrosine Kinase Deficiency

Question 9

It is important for B-cell development, differentiation, and signaling

Answer 9

Bruton Tyrosine Kinase

Question 10

No BTK results to

Answer 10

hypogammaglobulinemia

Question 11

it is associated with a mutation in the CHS1 LYST gene

Answer 11

chediak-higashi syndrome

Question 12

CHS1 LYST gene is found on chromosome

Answer 12

1q42.1-2

Question 13

it encodes for a protein that regulates the morphology/structure and function of lysosome-related organelles

Answer 13

CHS1 LYST gene

Question 14

Chediak-Higashi syndrome is associated with what abnormalities

Answer 14

structural and functional abnormality

Question 15

triad seen in chediak higashi syndrome

Answer 15

recurrent infection
photophobia
oculocutaneous albinism

Question 16

what is morphology seen in chediak higashi syndrome

Answer 16

large lysosomal granules

Question 17

pseudo CHS is seen in

Answer 17

acute myeloid leukemia
chronic myeloid leukemia
myelodysplastic syndrome

Question 18

what is increase in right shift

Answer 18

mature neutrophils

Question 19

what is increase in left shift

Answer 19

immature neutrophils

Question 20

what is the marker for hematopoietic stem cell

Answer 20

CD34

Question 21

are rare autosomal recessive inherited conditions resulting in the inability of neutrophils and monocytes to move from circulation to the site of inflammation

Answer 21

leukocyte adhesion disorder

Question 22

inflammation is also called as

Answer 22

extravasation

Question 23

LAD I is caused by a mutation in

Answer 23

ITGB2

Question 24

what is compromised in LAD II

Answer 24

selectin synthesis

Question 25

mutation in what causes LAD III

Answer 25

kindlin-3

Question 26

it is also a syndrome the same as LAD

Answer 26

shwachman-diamond syndrome (SDS)

Question 27

it is a rare condition caused by the decreased ability of neutrophils to undergo a respiratory burst after phagocytosis

Answer 27

chronic granulomatous disease (CGD)

Question 28

what abnormality is seen in CGD

Answer 28

functional abnormality

Question 29

CGD is associated with a deficiency in what

Answer 29

NADPH oxidase/respiratory burst

Question 30

test used in CGD

Answer 30

nitroblue tetrazolium dye test

Question 31

it is characterized by decreased nuclear segmentation and distinctive coarse chromatin clumping pattern

Answer 31

pelger-huet anomaly (PHA)

Question 32

PHA is the result of a mutation in the

Answer 32

lamin-B receptor gene

Question 33

lamin-B receptor gene mutation changes the

Answer 33

morphology in PHA

Question 34

PHA is associated with bilobed-appearance which is also called

Answer 34

"pince-nez"

Question 35

how many lobes are in normal neutrophil

Answer 35

3-5 lobes

Question 36

in what, is seen with more than five lobes and is associated with megaloblastic anemia

Answer 36

neutrophilic hypersegmentation (NH)

Question 37

it is characterized by granulocytes with large, darkly staining metachromatic cytoplasmic granules

Answer 37

alder-reilly anomaly (AR)

Question 38

patients with AR initially reported with

Answer 38

gargoylism

Question 39

reilly bodies are also seen in

Answer 39

mucopolysaccharidoses (MPS)

Question 40

reilly bodies in neutrophils resembles

Answer 40

heavy toxic granulation

Question 41

a disorder characterized by variable thrombocytopenia, giant platelets and large dohle like-bodies inclusion in neutrophils, eosinophils, basophils, and monocytes

Answer 41

may-hegglin anomaly (MHA)

Question 42

MHa is caused by the mutation in

Answer 42

MYH9 gene

Question 43

MYH9 gene is located in

Answer 43

chromosome 22q12-13

Question 44

dohle like-bodies inclusion in MHA are composed of

Answer 44

precipitated myosin heavy chain

Question 45

are disorder of mucopolysaccharide or glycoaminoglycan (GAG) degradation

Answer 45

mucopolysaccharidoses

Question 46

mucopolysaccharides is caused by enzyme deficiency to degrade

Answer 46

dermatan sulfate heparan sulfate

Question 47

it is the most common lysosomal lipid storage disease

Answer 47

gaucher disease

Question 48

gaucher disease is caused by what enzyme deficiency

Answer 48

B-glucocerebrosidase

Question 49

B-glucocerebrosidase is located on what chromosome

Answer 49

1q21-q22

Question 50

it projects a striated or wrinkled appearance (onion-skin like)

Answer 50

gaucher cells

Question 51

gaucher cells are positive in what stain

Answer 51

trichrome aldehyde fuchsin periodic acid shift (PAS) acid phosphatase (ACP)