IS Lec Final - Diseases

Question 1

3 Disorders of Neutrophils

Answer 1

Noninfectious Neutrophil-Mediated Inflammatory Disease
Abnormal Neutrophil Function
Congenital Neutrophil Abnormalities

Question 2

2 Types of Noninfectious Neutrophil-Mediated Inflammatory Disease

Answer 2

inappropriate phagocytosis
inappropriate activation of phagocytosis

Question 3

prolonged activation of NADPH oxidase

Answer 3

inappropriate phagocytosis

Question 4

phagocytes attempt to engulf particles that are too large, releasing oxygen radicals and granule contents onto the particle, but these escape into the surrounding tissues, generating tissue damage.

Answer 4

inappropriate phagocytosis

Question 5

Ex: in response to dust inhalation and smoking (e.g., nicotine) and in persistent infections such as cystic fibrosis

Answer 5

inappropriate phagocytosis

Question 6

Autoimmune diseases such as Grave’s disease, rheumatoid arthritis, multiple sclerosis

Answer 6

inappropriate activation of phagocytosis

Question 7

4 types of Abnormal Neutrophil Function

Answer 7

Quantitative or qualitative defects of neutrophils
Impaired leukocyte mobility
Defective locomotion or leukocyte immobility
Defect in the cellular response to chemotaxis

Question 8

high rate of infection

Answer 8

Quantitative or qualitative defects of neutrophils

Question 9

Quantitative or qualitative defects of neutrophils examples

Answer 9

recurrent systemic bacterial infections (e.g., pneumonia), disseminated cutaneous pyogenic
lesions, and other types of life-threatening bacterial and fungal infections

too low (neutropenia) or too high (neutrophilia) both translates to high infection rate

Question 10

defects in the granules and neutrophils

Answer 10

Impaired leukocyte mobility

Question 11

Impaired leukocyte mobility ex

Answer 11

rheumatoid arthritis, cirrhosis, CGD

Question 12

total immobility, prone to recurrent bacterial infections

Answer 12

Defective locomotion or leukocyte immobility

Question 13

Defective locomotion or leukocyte immobility ex

Answer 13

Lazy leukocyte syndrome, patients in steroids

Question 14

recurrent bacterial infection

Answer 14

Defect in the cellular response to chemotaxis

Question 15

Defect in the cellular response to chemotaxis ex

Answer 15

Chediak Higashi anomaly, sepsis, Job’s syndrome (hyperimmunoglobulinemia E)

Question 16

• qualitative disorder of neutrophils
• Autosomal recessive
• Abnormal granulation of platelets and neutrophils
• impaired chemotaxis and delayed killing of ingested bacteria
  occurs during childhood

Answer 16

Chédiak-Higashi syndrome (anomaly)

Question 17

group of disorders of oxidative metabolism affecting the cascade of events required for H2O2 production by phagocytes

Answer 17

Chronic granulomatous disease (CGD)

Question 18

mutation in CYBB – required for microbicidal ROS production by neutrophils and monocytes

Answer 18

Chronic granulomatous disease (CGD)

Question 19

Results to life- threatening infections and granulomatous complications

Answer 19

Chronic granulomatous disease (CGD)

Question 20

• deficiency of CR3 on phagocytic cells presents as a leukocyte adhesion deficiency

Answer 20

Complement receptor 3 (CR3) deficiency

Question 21

marked abnormalities of adherence-related functions

Answer 21

Complement receptor 3 (CR3) deficiency

Question 22

Leukocyte adhesion deficiency type 1 (LAD- 1) - deficiency of CD18

LAD-2 - absence of sialyl–Lewis X (CD15s) blood group antigen

Answer 22

Complement receptor 3 (CR3) deficiency

Question 23

innately present on the body and needed for leukocyte adhesion, adhesion is impaired, translates to LAD 1 and 2

Answer 23

Complement receptor 3 (CR3) deficiency

Question 24

patient’s phagocytes manifest a mild to moderate defect in bacterial killing and a marked defect infungal killing in vitro

Answer 24

Myeloperoxidase deficiency

Question 25

azurophilic granules are present but MPO are absent, MPO causes greenish coloration in pus, infancy to childhood, manifested by delayed separation in umbilical cord, sipon bacterial (greenish to yellowish) viral (watery & colorless, no medication, dengue has no antibiotics)

Answer 25

Myeloperoxidase deficiency

Question 26

an iron- containing heme protein responsible for the peroxidase activity characteristic of azurophilic granules

Answer 26

Myeloperoxidase

Question 27

azurophilic granules are also called ____

Answer 27

non specific bc they are found in all granulocytes

Question 28

caused by a failure to synthesize specific granules and some contents of other granules during differentiation of neutrophils in the bone marrow.

Answer 28

Specific granule deficiency

Question 29

Results to recurrent, severe bacterial infections of the skin and deep tissues, with a depressed inflammatory response

Answer 29

Specific granule deficiency

Question 30

5 Primary and Secondary Abnormalities of Monocyte-Macrophage Function

Answer 30

Defect in phagocyte killing Defective monocyte cytotoxicity Defective release of macrophage-activating Factors Depressed migration Impaired phagocytosis

Question 31

Defect in phagocyte killing examples

Answer 31

Chronic granulomatous disease, corticosteroid therapy, newborn infants, viral infections; liver, lungs, spleen, lymph nodes

Question 32

Defective monocyte cytotoxicity examples

Answer 32

Cancer, Wiskott-Aldrich Syndrome, TIE (thrombocytopenia, immunodeficiency, eczema)

Question 33

Defective release of macrophage-activating Factors examples

Answer 33

Acquired Immunodeficiency Syndrome (AIDS), Intracellular infections (lepromatous leprosy, tuberculosis, visceral leishmaniasis)

Question 34

In AIDS, what is dominant?

Answer 34

CD8 (cytotoxic cells) becomes more dominant than CD4 (t-helper cells)

Question 35

Depressed migration examples

Answer 35

AIDS, burns, diabetes, immunosuppressive therapy, newborn infants

Question 36

what is the state of blood in diabetes?

Answer 36

blood is viscous in diabetes and membranes are thickened which results to plug formation, impaired migration of phagocytes

Question 37

Impaired phagocytosis examples

Answer 37

Congenital deficiency of CD11-CD18, monocytic leukemia, systemic lupus, erythematosus

Question 38

Qualitative Monocyte-Macrophage Disorders aka ___

Answer 38

lipid storage disorders

Question 39

systemic enzymatic defect permits the accumulation of cell debris normally cleared by macrophages

Answer 39

lipid storage diseases

Question 40

resistance to infection can be impaired, at least partially, because of a defect in macrophage function

Answer 40

lipid storage diseases

Question 41

they store lipid products, which need to be degraded by certain enzymes when they lack specific enzymes needed for lipid metabolism, it will accumulate

Answer 41

monocytes and macrophages

Question 42

Deficiency of β-glucocerebrosidase, the enzyme that normally splits glucose from its parent sphingolipid, glucosylceramide

Answer 42

Gaucher’s Disease

Question 43

Accumulation of cerebroside in histiocytes

Answer 43

Gaucher’s Disease

Question 44

Cells are large, with one to three eccentric nuclei and a characteristically wrinkled cytoplasm

Answer 44

Gaucher’s Disease

Question 45

Found in the bone marrow, spleen, and other organs of the mononuclear phagocyte system

Answer 45

Gaucher’s Disease

Question 46

Production of erythrocytes and leukocytes decreases as these abnormal cells infiltrate the bone marrow

Answer 46

Gaucher’s Disease

Question 47

Recessive deficiency of the enzyme sphingomyelinase

Answer 47

Niemman Pick Disease

Question 48

Accumulation of sphingomyelin in the mononuclear phagocytes

Answer 48

Niemman Pick Disease

Question 49

The characteristic cell is similar in appearance to Gaucher’s cell, although the cytoplasm of the cell is foamy

Answer 49

Niemman Pick Disease

Question 50

lack of enzyme means that majority of the waste material remains in the lysosome

Answer 50

Gaucher's Disease

Question 51

Disease States Involving Leukocyte Integrins

Answer 51

Leukocyte adhesion deficiency (LAD)

Question 52

what do you call the adhesive molecules?

Answer 52

integrins

Question 53

leads to recurrent and often fatal bacterial and fungal infections

Answer 53

Leukocyte adhesion deficiency (LAD)

Question 54

5 features of Leukocyte adhesion deficiency (LAD)

Answer 54

* Delayed separation of umbilical cord * Gingivitis * Recurrent and persistent bacterial or fungal skin infections * Impaired wound healing * Lack of pus formation

Question 55

can affect people of all racial groups

Answer 55

LAD-1

Question 56

a deficiency of the β2-integrin subunit (CD18)

Answer 56

LAD-1

Question 57

The phenotypes are severe, moderate, and novel or variant

Answer 57

LAD-1

Question 58

affects people from the Middle East and Brazil

Answer 58

LAD-2

Question 59

failure to convert guanosine diphosphate (GDP) mannose to fructose

Answer 59

LAD-2

Question 60

no deficiency, just failure of conversion

Answer 60

LAD-2