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HEMATOLOGY > Non-Malignant Leukocyte Disorder, > Flashcards

Non-Malignant Leukocyte Disorder, Flashcards

1
Q

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

A

wiskott-aldrich syndrome

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2
Q

wiskott-aldrich syndrome is characterized by mutation in

A

WAS gene

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3
Q

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

A

WASp protein

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4
Q

medication therapy for thrombocytopenia in wiskott-aldrich syndrome

A

eltrombopag
romiplostim

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5
Q

It includes DiGeorge Syndrome

A

22q11 deletion syndrome

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6
Q

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

A

22q11 deletion syndrome

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7
Q

it is classified as an antibody deficiency

A

Bruton Tyrosine Kinase Deficiency

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8
Q

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

A

Bruton Tyrosine Kinase Deficiency

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9
Q

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

A

Bruton Tyrosine Kinase

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10
Q

No BTK results to

A

hypogammaglobulinemia

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11
Q

it is associated with a mutation in the CHS1 LYST gene

A

chediak-higashi syndrome

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12
Q

CHS1 LYST gene is found on chromosome

A

1q42.1-2

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13
Q

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

A

CHS1 LYST gene

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14
Q

Chediak-Higashi syndrome is associated with what abnormalities

A

structural and functional abnormality

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15
Q

triad seen in chediak higashi syndrome

A

recurrent infection
photophobia
oculocutaneous albinism

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16
Q

what is morphology seen in chediak higashi syndrome

A

large lysosomal granules

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17
Q

pseudo CHS is seen in

A

acute myeloid leukemia
chronic myeloid leukemia
myelodysplastic syndrome

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18
Q

what is increase in right shift

A

mature neutrophils

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19
Q

what is increase in left shift

A

immature neutrophils

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20
Q

what is the marker for hematopoietic stem cell

A

CD34

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21
Q

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

A

leukocyte adhesion disorder

22
Q

inflammation is also called as

A

extravasation

23
Q

LAD I is caused by a mutation in

A

ITGB2

24
Q

what is compromised in LAD II

A

selectin synthesis

25
Q

mutation in what causes LAD III

A

kindlin-3

26
Q

it is also a syndrome the same as LAD

A

shwachman-diamond syndrome (SDS)

27
Q

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

A

chronic granulomatous disease (CGD)

28
Q

what abnormality is seen in CGD

A

functional abnormality

29
Q

CGD is associated with a deficiency in what

A

NADPH oxidase/respiratory burst

30
Q

test used in CGD

A

nitroblue tetrazolium dye test

31
Q

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

A

pelger-huet anomaly (PHA)

32
Q

PHA is the result of a mutation in the

A

lamin-B receptor gene

33
Q

lamin-B receptor gene mutation changes the

A

morphology in PHA

34
Q

PHA is associated with bilobed-appearance which is also called

A

“pince-nez”

35
Q

how many lobes are in normal neutrophil

A

3-5 lobes

36
Q

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

A

neutrophilic hypersegmentation (NH)

37
Q

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

A

alder-reilly anomaly (AR)

38
Q

patients with AR initially reported with

A

gargoylism

39
Q

reilly bodies are also seen in

A

mucopolysaccharidoses (MPS)

40
Q

reilly bodies in neutrophils resembles

A

heavy toxic granulation

41
Q

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

A

may-hegglin anomaly (MHA)

42
Q

MHa is caused by the mutation in

A

MYH9 gene

43
Q

MYH9 gene is located in

A

chromosome 22q12-13

44
Q

dohle like-bodies inclusion in MHA are composed of

A

precipitated myosin heavy chain

45
Q

are disorder of mucopolysaccharide or glycoaminoglycan (GAG) degradation

A

mucopolysaccharidoses

46
Q

mucopolysaccharides is caused by enzyme deficiency to degrade

A

dermatan sulfate
heparan sulfate

47
Q

it is the most common lysosomal lipid storage disease

A

gaucher disease

48
Q

gaucher disease is caused by what enzyme deficiency

A

B-glucocerebrosidase

49
Q

B-glucocerebrosidase is located on what chromosome

A

1q21-q22

50
Q

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

A

gaucher cells

51
Q

gaucher cells are positive in what stain

A

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

HEMATOLOGY (7 decks)

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