1S [LEC]: Non-Malignant Leukocytic Disorders

Question 1

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

Answer 1

Nonmalignant Leukocyte Disorders

Question 2

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

Answer 2

Severe combined immune deficiency

Question 3

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

Answer 3

T cells and NK cells

Question 4

In SCID, there is hypogammaglobulinemia and poorly functioning ___

Answer 4

B cells

Question 5

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

Answer 5

SCID

Question 6

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

Answer 6

Gamma chain deficiency

Question 7

Gamma chain deficiency is also known as ___

Answer 7

X-linked SCID

Question 8

Caused by mutations in the IL2RG gene

Answer 8

Gamma chain deficiency

Question 9

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

Answer 9

IL2RG

Question 10

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

Answer 10

Gamma chain deficiency

Question 11

Gamma chain deficiency is symptomatic within ___

Answer 11

3-6 months

Question 12

An SCID that represents 10-20% of the cases

Answer 12

Adenosine deaminase deficiency (ADA Deficiency)

Question 13

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

Answer 13

Adenosine deaminase deficiency (ADA Deficiency)

Question 14

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

Answer 14

Wiskott-Aldrich Syndrome (WAS)

Question 15

Triad of Wiskott-Aldrich Syndrome (WAS)

Answer 15

Immunodeficiency
Thrombocytopenia
Eczema

Question 16

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

Answer 16

Di George Syndrome/ 22q11.2 Syndrome

Question 17

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

Answer 17

thymus

Question 18

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

Answer 18

T cells

Question 19

One of the hallmarks are large platelets

Answer 19

Di George Syndrome/ 22q11.2 Syndrome

Question 20

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

Answer 20

Bruton Tyrosine Kinase Deficiency

Question 21

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

Answer 21

Bruton Tyrosine Kinase

Question 22

Bruton Tyrosine Kinase Deficiency displays symptoms at ___ months

Answer 22

4-6 months

Question 23

A mutation in the CHAI-LYST gene

Answer 23

Chediak-Higashi Syndrome

Question 24

Contains abnormally large lysosomes, which contain fused dysfunctional granules

Answer 24

Chediak-Higashi Syndrome

Question 25

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

Answer 25

Chediak-Higashi Syndrome

Question 26

Neutrophils with giant lysosomal granules

Answer 26

Chediak-Higashi Syndrome

Question 27

Resemble fused lysosomal granules in Chediak-Higashi syndrome

Answer 27

Pseudo-Chediak-Higashi granules

Question 28

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

Answer 28

Leukocyte adhesion disorder

Question 29

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

Answer 29

Leukocyte adhesion disorder (LAD) I

Question 30

Decrease of truncated form of the B2 integrins

Answer 30

Leukocyte adhesion disorder (LAD) I

Question 31

Highest mortality rate among all LAD

Answer 31

Leukocyte adhesion disorder (LAD) I

Question 32

Mutation on SL35C1

Answer 32

Leukocyte adhesion disorder (LAD) II

Question 33

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

Answer 33

Leukocyte adhesion disorder (LAD) II

Question 34

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

Answer 34

Leukocyte adhesion disorder (LAD) III

Question 35

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

Answer 35

Kindlin-3

Question 36

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

Answer 36

Leukocyte adhesion disorder (LAD) III

Question 37

Mild LAD I-like immunodeficiency with recurrent infections

Answer 37

Leukocyte adhesion disorder (LAD) III

Question 38

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

Answer 38

Swachman-Diamond Syndrome (SDS)

Question 39

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

Answer 39

SBDS gene

Question 40

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

Answer 40

Chronic granulomatous disease

Question 41

Mutations in genes responsible for proteins that make up NADPH oxidase

Answer 41

Chronic granulomatous disease

Question 42

Test for Chronic granulomatous disease

Answer 42

Nitroblue tetrazolium dye test

Question 43

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

Answer 43

Nitroblue tetrazolium dye test

Question 44

Mutation in the CXCR4 gene

Answer 44

Warts, hypogammaglobulinemia, immunodeficiency, myelokathexis (WHIM) syndrome

Question 45

An accumulation of neutrophils in the bone marrow

Answer 45

Myelokathexis

Question 46

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

Answer 46

HPV infection

Question 47

Morphologic leukocyte abnormality: Mutation in lamin-B-receptor gene

Answer 47

Pelger-Huet anomaly

Question 48

Morphologic leukocyte abnormality: Decreased nuclear segmentation with distinctive coarse chromatin clumping pattern

Answer 48

Pelger-Huet anomaly

Question 49

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

Answer 49

True

Question 50

Morphologic leukocyte abnormality: Nucleus has a bilobed, spectacle-like, prince-nez, peanut shaped, round ovoid

Answer 50

Pelger-Huet anomaly

Question 51

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

Answer 51

True

Question 52

Morphologic leukocyte abnormality: Smaller neutrophil, smaller cell size, darker, coarse, densely clumped chromatin, clear cytoplasm

Answer 52

Pelger-Huet anomaly

Question 53

Identify whether true or pseudo PHA: Affected cells >68%

Answer 53

True

Question 54

Identify whether true or pseudo PHA: All WBC lineages can be affected

Answer 54

True

Question 55

Identify whether true or pseudo PHA: Hereditary

Answer 55

True

Question 56

Identify whether true or pseudo PHA: Affected <35%

Answer 56

Pseudo

Question 57

Morphologic leukocyte abnormality: Found in myelodysplastic anemia and megaloblastic anemia

Answer 57

Hypersegmented neutrophils

Question 58

Morphologic leukocyte abnormality: Granulocytes with large, darkly staining metachromatic cytoplasmic granules that may resemble toxic granulations

Answer 58

Alder-reilly anomaly

Question 59

Alder-reilly or Reilly bodies are made up of ___

Answer 59

Partially digested mucopolysaccharides

Question 60

Morphologic leukocyte abnormality: Mutation in MYH9 gene

Answer 60

May-hegglin anomaly

Question 61

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

Answer 61

Myosin heavy chain type IIA

Question 62

Morphologic leukocyte abnormality: Affects megakaryocyte maturation and platelet fragmentation, leading to large platelet

Answer 62

May-hegglin anomaly

Question 63

Morphologic leukocyte abnormality: Has thrombocytopenia, giant platelets, and Dohle body-like inclusions in leukocytes

Answer 63

May-hegglin anomaly

Question 64

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

Answer 64

Ribosomal RNA

Question 65

Morphologic leukocyte abnormality: Most common of the lysosomal lipid storage diseases

Answer 65

Gaucher disease

Question 66

Enzyme deficient in Gaucher disease

Answer 66

B-glucoceribrosidase

Question 67

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

Answer 67

Gaucher disease

Question 68

Lipid storage disease: Accumulation of glucocerebroside

Answer 68

Gaucher disease

Question 69

Nieman-pick disease is caused by a deficiency in ___

Answer 69

Sphingomyelinase

Question 70

Morphologic leukocyte abnormality present in Niemann-pick disease

Answer 70

Foam cells

Question 71

Morphologic leukocyte abnormality: Macrophages with cytoplasm packed with lipid-filled lysosomes that appear as small vacuoles after staining

Answer 71

Foam cells

Question 72

Characterized by reactive neutrophilic leukocytosis with a shift to the left

Answer 72

Leukemoid reaction

Question 73

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

Answer 73

Leukoerythroblastic reaction

Question 74

Leukoerythroblastic reaction is usually seen in ___

Answer 74

Primary myelofibrosis

Question 75

A specific virus causing monocytopenia

Answer 75

Epstein-Barr virus (HHV4)

Question 76

Secondary morphologic change: Thin, band-like segmenting nuclei, contorted nucleus

Answer 76

Reactive monocyte

Question 77

Secondary morphologic change: Dark blue-black granules in the cytoplasm of neutrophils

Answer 77

Toxic granulation

Question 78

Secondary morphologic change: May be confused by Alder-Reilly

Answer 78

Toxic granulation

Question 79

Secondary morphologic change: Suggestive of inflammation and infections

Answer 79

Toxic granulation

Question 80

Secondary morphologic change: Cytoplasmic inclusion consisting of remnants of rRNA arranged in parallel rows

Answer 80

Dohle bodies

Question 81

Dohle bodies appear together with ___

Answer 81

Toxic granulation

Question 82

Secondary morphologic change: Vacuoles with immunoglobulin

Answer 82

Morula cell/ Grape cell

Question 83

Secondary morphologic change: Indicate imminent cell death; evidence of toxicity in the cell

Answer 83

Pyknotic nuclei

Question 84

Secondary morphologic change: Dead neutrophils

Answer 84

Necrotic nuclei

Question 85

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

Answer 85

A

Question 86

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

Answer 86

D

Question 87

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

Answer 87

C

Question 88

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

Answer 88

B

Question 89

The neutrophils in chronic granulomatous diseases are incapable of producing: a. Hydrogen peroxide b. Hypochlorous acid c. Superoxide d. All of the above

Answer 89

D

Question 90

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

Answer 90

C

Question 91

An absolute lymphocytosis with reactive lymphocytes suggests which of the following conditions? a. DiGeorge syndrome b. Bacterial infection c. Parasitic infection d. Viral infection

Answer 91

D

Question 92

What leukocyte cytoplasmic inclusion is composed of ribosomal RNA? a. Primary granules b. Toxic granules c. Dohle bodies d. Howell-Joly bodies

Answer 92

C