Lecture 30: Immunodeficiencies

Question 2

Immunodeficiencies result from the ____

Answer 2

Absence or failure of normal function of immune system

Question 3

What is the primary consequence of immunodeficiencies

Answer 3

Increased susceptibility to infection

Question 4

What type of infections by organisms do not commonly cause disease in immunocompetent animals

Answer 4

Recurrent or chronic infections

Question 5

What is the common infectious consequence of B cell deficiencies

Answer 5

Bacterial infections

Question 6

What is the common consequence of T cell deficiencies

Answer 6

Viral and intracellular microbial infections

Question 7

What is the common consequence of innate immune deficiencies

Answer 7

Bacterial and viral infections

Question 8

What type of immunodeficiency is inheritable and develop in young animals

Answer 8

Primary (genetic)

Question 9

What type of immunodeficiency is acquired and tend to occur in adult animals

Answer 9

Secondary

Question 10

Primary immunodeficiencies can result in defects in __maturation, ___ activation or components of ___immunity

Answer 10

Lymphocyte maturation, lymphocyte activation and innate immunity

Question 11

Innate immune deficiency defects typically occur in what processes

Answer 11

Phagocytosis and intracellular killing or complement

Question 12

What complement involves C1, C4 and C2 to form C3 convertase

Answer 12

Classical

Question 13

What pathway involve sMASP, C4, and C2 to form c3 convertase

Answer 13

Mannose binding lectin

Question 14

What pathway involves C3, CFB, and CFD to form c3 convertase

Answer 14

Alternative

Question 15

What is the most severe complement innate deficiency

Answer 15

C3 deficiency

Question 16

What complement deficiency results in severe recurrent bacterial infections usually in skin and respiratory systems

Answer 16

C3 deficiency

Question 17

What complement deficiency results in increased C3a and C5a convertase activity

Answer 17

Factor H deficiency

Question 18

Factor H deficiency results in increased ___

Answer 18

Inflammation

Question 19

What gene is affected in Chediak Higashi Syndrome

Answer 19

LYST (CHS1)

Question 20

What doe LYST regulate

Answer 20

Intracellular protein trafficking of lysosomes and secretory granules

Question 21

What does a mutation of LYST result in

Answer 21

Abnormally large granules:

Lysosomes of leukocytes and platelets
Secretory granules of various cells
Melanosomes of melanocytes

Question 22

What symptoms characterize chediak higashi syndrome

Answer 22

Albinism, photophobia, peripheral neuropathy, bleeding disorders, increased infections

Question 23

What genetic mutation causes Pelger Huet Anolay

Answer 23

Lamin B receptor (LBR)

Question 24

What is the result of a mutation in LBR

Answer 24

Failure of granulocyte nuclei to segment into lobes (hypo segmentation)

Granulocytes appear immature, left shift on CBC, may be mistaken for early stage lymphoma

Question 25

PHA is generally lethal in what type of inheritance

Answer 25

Homozygous

Question 26

A mutation in what gene causes trapped neutrophil syndrome

Answer 26

VPS13B

Question 27

What does a mutation in VPS13B cause

Answer 27

Failure of bone marrow to release neutrophils resulting in severe neutropenia

Question 28

What characterizes trapped neutrophil syndrome

Answer 28

Long head and legs, failure to thrive, weakness, joint pain and swelling, recurrent bacterial infections

Question 29

Leukocyte adhesion deficiencies is caused by what

Answer 29

Deficiency in Cd18-integrity B2 chain

Question 30

What is the result of leukocyte adhesion deficiency

Answer 30

Impaired WBC extravasation resulting in high WBC counts

Question 31

What mutation causes cyclic neutropenia

Answer 31

AP3B1

Question 32

What does a mutation in AP3B1 result in

Answer 32

Shorter PMN life span, cyclic PMN counts, recurrent bacterial infections, joint pain and bleeding disorders

Question 33

What is the genetic mutation in foal immunodeficiency syndrome

Answer 33

Sodium/myo inositol co-transporter SLC5A3

Question 34

What is the result of a mutation in SLC5A3

Answer 34

Low levels of RBC’s and B cells, become progressively anemic and more susceptible to recurrent infections

Question 35

What is the mutation in XLA

Answer 35

Btk

Question 36

What does mutation in Btk cause

Answer 36

Inability of Pre-B cells to synthesis and express complete BCR, resulting in B cell apoptosis

Question 37

What disease is characterized by a lack of B cells and Ig’s in serum and results in recurrent bacterial infections

Answer 37

XLA

Question 38

IgA deficiency results in what

Answer 38

Inability to differentiate into IgA secreting plasma cells which results in recurrent infections on mucosal surfaces

Question 39

What Ig deficiency is correlated with higher rates of allergies

Answer 39

IgA

Question 40

Immunoglobulin deficiencies can cause what problem in foals

Answer 40

Failure of passive transfer

Question 41

What gene is mutated in thymus aplasia

Answer 41

FOXN1

Question 42

What is FOXN1 involved in

Answer 42

Regulation of T cell maturation

Question 43

Thymus aplasia is characterized by what

Answer 43

Reduced T cells production resulting in increased susceptibility to opportunistic infections

Question 44

What mutation is associated with congenital hypotrichosis (no hair growth)

Answer 44

FOXN1

Question 45

Severe combined immuno-deficiencies results in deficit in what cells

Answer 45

B and T lymphocytes

Question 46

Patients with severe combined immuno-deficiencies are highly susceptible to

Answer 46

Life-threatening viral, bacterial, and fungal infections

Question 47

What is DNA-Pk involved in

Answer 47

VDJ recombination process in both B and T cells

Question 48

What does a mutation in DNA-pk result in

Answer 48

Failure of B and T cell maturation resulting in severe lymphopenia

Question 49

What SCID causes patients to lack all serum Ig’s, hypoplasia of lymphatic tissues and severe infections beginning at 6-8 weeks of age

Answer 49

Mutation in DNA-PK

Question 50

What is the common y subunit a component of

Answer 50

Cytokine receptors

Question 51

A mutation in y subunit results in

Answer 51

Nonfunctional cytokine receptors which are important for lymphocyte maturation and function

Question 52

How is y subunit mutation characterized

Answer 52

Poorly developed thymus, lack of T cells, lack of IgG/IgA (IgM okay), failure to thrive and severe infections around 6-8 weeks of age

Question 53

Malnutrition shows increased susceptibility to infection due to impairment of what cell

Answer 53

T cell function

Question 54

Effects of malnutrition have thought to been related to levels of what hormone

Answer 54

Leptin

Question 55

Malnutrition results in decrease ___ cells and release of immunosuppressive cytokines such as __

Answer 55

T cells, IL-10

Question 56

Over nutrition activates what macrophages and results in what

Answer 56

M1- release of pro-inflammatory cytokines

Question 57

What drug has numerous immunosuppressive effects

Answer 57

Glucocorticoids

Question 58

What drug inhibits NFAT and therefore T cell production

Answer 58

Cyclosporine

Question 59

FIV primarily affects and destroys what cells and results in what

Answer 59

CD4T resulting in decline of cell mediated immunity and increased susceptibility to infection

Question 60

BLV infects and transforms what cells

Answer 60

B cells

Question 61

Chronic stress leads to elevation of endogenous ___ which results in what

Answer 61

Glucocorticoids, immunosuppression

Question 62

Stress induced immune suppression plays a major role in susceptibility to ____ disease

Answer 62

Infectious

Question 63

Describe the decline in immune function with age

Answer 63

Immunosenescence