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MT6325 > 1S [LEC]: Non-Malignant Leukocytic Disorders > Flashcards

1S [LEC]: Non-Malignant Leukocytic Disorders Flashcards

1
Q

Leukocyte disorders that are not caused by clonal or neoplastic changes in hematopoietic precursor cells

A

Nonmalignant Leukocyte Disorders

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2
Q

A group of both genetic immunodeficiencies affecting both cellular and humoral immunity

A

Severe combined immune deficiency

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3
Q

In SCID, these cells are decreased, leading to patient being more vulnerable to infections

A

T cells and NK cells

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4
Q

In SCID, there is hypogammaglobulinemia and poorly functioning ___

A

B cells

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5
Q

If left untreated, ___ patients die within the first two years of life

A

SCID

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6
Q

An example of SCID where infants have no thymus, tonsils, or lymph nodes

A

Gamma chain deficiency

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7
Q

Gamma chain deficiency is also known as ___

A

X-linked SCID

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8
Q

Caused by mutations in the IL2RG gene

A

Gamma chain deficiency

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9
Q

This gene codes for the common gamma chain in leukocyte receptors binding with IL

A

IL2RG

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10
Q

An SCID where T and NK cells are nearly absent while the B cells are adequate but are dysfunctional

A

Gamma chain deficiency

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11
Q

Gamma chain deficiency is symptomatic within ___

A

3-6 months

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12
Q

An SCID that represents 10-20% of the cases

A

Adenosine deaminase deficiency (ADA Deficiency)

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13
Q

Results in the decrease in T, B, and NK cells and accumulation of adenosine, which is lymphotoxic

A

Adenosine deaminase deficiency (ADA Deficiency)

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14
Q

An X-linked disease that has a normal or high NK cell number but have diminished cytotoxic activity

A

Wiskott-Aldrich Syndrome (WAS)

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15
Q

Triad of Wiskott-Aldrich Syndrome (WAS)

A

Immunodeficiency
Thrombocytopenia
Eczema

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16
Q

Caused by a microdeletion in chromosome band 22q11.2, involving TBX1 gene

A

Di George Syndrome/ 22q11.2 Syndrome

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17
Q

In Di George Syndrome/ 22q11.2 Syndrome, there is an absence or decreased size of the ___

A

thymus

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18
Q

Specific lymphocyte that is decreased in Di George Syndrome/ 22q11.2 Syndrome

A

T cells

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19
Q

One of the hallmarks are large platelets

A

Di George Syndrome/ 22q11.2 Syndrome

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20
Q

An X-linked agammaglobulinemia that causes decreased or absent B cells

A

Bruton Tyrosine Kinase Deficiency

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21
Q

Decreased production of ___ decreases b cell development, differentiation, and signaling

A

Bruton Tyrosine Kinase

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22
Q

Bruton Tyrosine Kinase Deficiency displays symptoms at ___ months

A

4-6 months

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23
Q

A mutation in the CHAI-LYST gene

A

Chediak-Higashi Syndrome

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24
Q

Contains abnormally large lysosomes, which contain fused dysfunctional granules

A

Chediak-Higashi Syndrome

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25
Q

Clinical manifestations include partial albinism and severe recurrent life-threatening bacterial infections

A

Chediak-Higashi Syndrome

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26
Q

Neutrophils with giant lysosomal granules

A

Chediak-Higashi Syndrome

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27
Q

Resemble fused lysosomal granules in Chediak-Higashi syndrome

A

Pseudo-Chediak-Higashi granules

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28
Q

Inability of neutrophils and monocytes to move from circulation to the site of inflammation

A

Leukocyte adhesion disorder

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29
Q

Mutation in ITGB2, encoding the CD18 subunit B2 integrins important in adhesion

A

Leukocyte adhesion disorder (LAD) I

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30
Q

Decrease of truncated form of the B2 integrins

A

Leukocyte adhesion disorder (LAD) I

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31
Q

Highest mortality rate among all LAD

A

Leukocyte adhesion disorder (LAD) I

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32
Q

Mutation on SL35C1

A

Leukocyte adhesion disorder (LAD) II

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33
Q

Defective fucose transporter, leading to an inability to produce functional selectins important in the rolling process

A

Leukocyte adhesion disorder (LAD) II

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34
Q

Mutation in Kindlin-3, for activation of B-integrin and leukocyte rolling

A

Leukocyte adhesion disorder (LAD) III

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35
Q

Required for normal inside-out signaling of hematopoietic cells of B1, B2, B3 integrin activation

A

Kindlin-3

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36
Q

Leukocytes and platelets have normal expression of integrins; but there is a failure in response to external signals for leukocyte activation

A

Leukocyte adhesion disorder (LAD) III

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37
Q

Mild LAD I-like immunodeficiency with recurrent infections

A

Leukocyte adhesion disorder (LAD) III

38
Q

Mutation in SBDS gene that also causes a defect in leukocyte motility

A

Swachman-Diamond Syndrome (SDS)

39
Q

A key component in ribosome maturation, cell proliferation, maintenance of bone marrow microenvironment

40
Q

Defects in the respiratory burst, where there is a decreased ability of neutrophils to undergo a respiratory burst after phagocytosis of foreign organisms

A

Chronic granulomatous disease

41
Q

Mutations in genes responsible for proteins that make up NADPH oxidase

A

Chronic granulomatous disease

42
Q

Test for Chronic granulomatous disease

A

Nitroblue tetrazolium dye test

43
Q

Has the ability to produce a deep blue color with the formation of reactive oxygen species

A

Nitroblue tetrazolium dye test

44
Q

Mutation in the CXCR4 gene

A

Warts, hypogammaglobulinemia, immunodeficiency, myelokathexis (WHIM) syndrome

45
Q

An accumulation of neutrophils in the bone marrow

A

Myelokathexis

46
Q

Patients with WHIM syndrome is highly susceptible to which virus infection?

A

HPV infection

47
Q

Morphologic leukocyte abnormality:

Mutation in lamin-B-receptor gene

A

Pelger-Huet anomaly

48
Q

Morphologic leukocyte abnormality:

Decreased nuclear segmentation with distinctive coarse chromatin clumping pattern

A

Pelger-Huet anomaly

49
Q

T/F: Pelger-Huet anomaly affects all leukocytes and morphologic changes are most obvious in mature neutrophils

50
Q

Morphologic leukocyte abnormality:

Nucleus has a bilobed, spectacle-like, prince-nez, peanut shaped, round ovoid

A

Pelger-Huet anomaly

51
Q

T/F: Neutrophils in Pelger-Huet anomaly function normally

52
Q

Morphologic leukocyte abnormality:

Smaller neutrophil,
smaller cell size, darker, coarse, densely clumped chromatin, clear cytoplasm

A

Pelger-Huet anomaly

53
Q

Identify whether true or pseudo PHA:

Affected cells >68%

54
Q

Identify whether true or pseudo PHA:

All WBC lineages can be affected

55
Q

Identify whether true or pseudo PHA:

Hereditary

56
Q

Identify whether true or pseudo PHA:

Affected <35%

57
Q

Morphologic leukocyte abnormality:

Found in myelodysplastic anemia and megaloblastic anemia

A

Hypersegmented neutrophils

58
Q

Morphologic leukocyte abnormality:

Granulocytes with large, darkly staining metachromatic cytoplasmic granules that may resemble toxic granulations

A

Alder-reilly anomaly

59
Q

Alder-reilly or Reilly bodies are made up of ___

A

Partially digested mucopolysaccharides

60
Q

Morphologic leukocyte abnormality:

Mutation in MYH9 gene

A

May-hegglin anomaly

61
Q

The May-hegglin anomaly is caused by a disordered production of ___

A

Myosin heavy chain type IIA

62
Q

Morphologic leukocyte abnormality:

Affects megakaryocyte maturation and platelet fragmentation, leading to large platelet

A

May-hegglin anomaly

63
Q

Morphologic leukocyte abnormality:

Has thrombocytopenia, giant platelets, and Dohle body-like inclusions in leukocytes

A

May-hegglin anomaly

64
Q

Compared to the Dohle body-like bodies in May-hegglin anomaly, true Dohle bodies consist of lamellar rows of ___

A

Ribosomal RNA

65
Q

Morphologic leukocyte abnormality:

Most common of the lysosomal lipid storage diseases

A

Gaucher disease

66
Q

Enzyme deficient in Gaucher disease

A

B-glucoceribrosidase

67
Q

Lipid storage disease:

Fibrillar blue-gray cytoplasm with a striated or wrinkled appearance resembling onion skin, chicken scratch, or crumpled paper

A

Gaucher disease

68
Q

Lipid storage disease:

Accumulation of glucocerebroside

A

Gaucher disease

69
Q

Nieman-pick disease is caused by a deficiency in ___

A

Sphingomyelinase

70
Q

Morphologic leukocyte abnormality present in Niemann-pick disease

A

Foam cells

71
Q

Morphologic leukocyte abnormality:

Macrophages with cytoplasm packed with lipid-filled lysosomes that appear as small vacuoles after staining

A

Foam cells

72
Q

Characterized by reactive neutrophilic leukocytosis with a shift to the left

A

Leukemoid reaction

73
Q

Simultaneous presence of immature neutrophils, nucleated red blood cells, teardrop RBCs

A

Leukoerythroblastic reaction

74
Q

Leukoerythroblastic reaction is usually seen in ___

A

Primary myelofibrosis

75
Q

A specific virus causing monocytopenia

A

Epstein-Barr virus (HHV4)

76
Q

Secondary morphologic change:

Thin, band-like segmenting nuclei, contorted nucleus

A

Reactive monocyte

77
Q

Secondary morphologic change:

Dark blue-black granules in the cytoplasm of neutrophils

A

Toxic granulation

78
Q

Secondary morphologic change:

May be confused by Alder-Reilly

A

Toxic granulation

79
Q

Secondary morphologic change:

Suggestive of inflammation and infections

A

Toxic granulation

80
Q

Secondary morphologic change:

Cytoplasmic inclusion consisting of remnants of rRNA arranged in parallel rows

A

Dohle bodies

81
Q

Dohle bodies appear together with ___

A

Toxic granulation

82
Q

Secondary morphologic change:

Vacuoles with immunoglobulin

A

Morula cell/ Grape cell

83
Q

Secondary morphologic change:

Indicate imminent cell death; evidence of toxicity in the cell

A

Pyknotic nuclei

84
Q

Secondary morphologic change:

Dead neutrophils

A

Necrotic nuclei

85
Q

Which one of the following inherited leukocyte disorders is caused by a mutation in the lamin B receptor?

a. Pelger-Huet anomaly
b. Chediak-Higashi disease
c. Alder-Reilly anomaly
d. May-hegglin anomaly

86
Q

Which one of the following inherited leukocyte disorders involves mutations in nonmuscle myosin heavy-chain ILA?

a. Pelger-Huet anomaly
b. Chediak-Higashi disease
c. Alder-Reilly anomaly
d. May-hegglin anomaly

87
Q

Which one of the following morphologic leukocyte abnormalities is a common manifestation of mucopolysaccharidoses?

a. Pelger-Huet anomaly
b. Chediak-Higashi disease
c. Alder-Reilly anomaly
d. May-hegglin anomaly

88
Q

Which one of the following lysosomal storage diseases is characterized by macrophages with striated cytoplasm and storage of glucocerebroside?

a. Sanfilippo syndrome
b. Gaucher disease
c. Fabry disease
d. Niemann-Pick disease

89
Q

The neutrophils in chronic granulomatous diseases are incapable of producing:

a. Hydrogen peroxide
b. Hypochlorous acid
c. Superoxide
d. All of the above

90
Q

Individuals with X-linked SCID have a mutation that affects their ability to synthesize:

a. Deaminase
b. Oxidase
c. IL-2 receptor
d. Il-8 receptor

91
Q

An absolute lymphocytosis with reactive lymphocytes suggests which of the following conditions?

a. DiGeorge syndrome
b. Bacterial infection
c. Parasitic infection
d. Viral infection

92
Q

What leukocyte cytoplasmic inclusion is composed of ribosomal RNA?

a. Primary granules
b. Toxic granules
c. Dohle bodies
d. Howell-Joly bodies

MT6325 (14 decks)

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