Immunopathology IV + CPC

Question 1

Name the X linked immunodeficiency syndromes

Answer 1

X-linked agammaglobulinemia
Hyper-IgM syndrome
Severe combined immunodeficiency
Wiskott-Aldrich syndrome

Question 2

Name the autosomal dominant primary immunodeficiency syndromes

Answer 2

C1 inhibitor deficiency

Question 3

Name the recessive immunodeficiency syndromes

Answer 3

DiGeorge syndrome

SCIDS

Question 4

Describe the pathology of X-linked agammaglobulinemia

Answer 4

Failure of B cell precursors to develop into mature B cells

Question 5

What is mutated in X-linked agammaglobulinemia?

Answer 5

Mutations in bruton tyrosine kinase gene which is required for signal transduction for Ig light chain rearrangement

Question 6

What kinds of infections will you see with X-linked agammaglobulinemia?

Answer 6

Recurrent bacterial infections
Enteroviral encephalitis
Giardia

Question 7

What are the symptoms of x linked agammaglobulinemia?

Answer 7

Absent B Cells
Decreased serum immunoglobulin
Normal marrow B cell precursors
Normal T-cell mediated reactions

Question 8

What is common variable immunodeficiency?

Answer 8

Characterized by hypogammaglobulinemia

Normal B cell count, but unable to differentiate into plasma cells

Question 9

What is isolated IgA deficiency

Answer 9

Low levels of serum and secretory IgA

Question 10

What are the complications arising form isolated IgA deficiency?

Answer 10

causing increased risk of respiratory and gastrointestinal disorders
anaphylactic transfusion reaction

Question 11

What is the cause of hyper IgM syndrome?

Answer 11

Defect in ability of helper T cells to deliver activating signals to B cells

Question 12

What would you observe in a hyper IgM syndrome?

Answer 12

Lots of IgM antibodies but deficiency of IgG, IgA, and IgE. etc.

Question 13

Is Hyper IgM linked?

Answer 13

The majority of hyper IgM cases are X linked

Question 14

How do you treat humor immunodeficiency syndromes?

Answer 14

With IvIg

Question 15

What is DiGeorge syndrome?

Answer 15

Failure of development of 3rd and 4th pharyngeal pouches during embryogenesis which causes thymic hypoplasia and loss of T cell immunity

Question 16

Where is the deletion for DiGeorge Syndrome?

Answer 16

22q11 deletion

Question 17

What infections are associated with T cell defects?

Answer 17

Bacterial sepsis
CMV, epstein barr, severe chicken pox
chronic respiratory/intestinal infection
Candida

Question 18

What do you observe in severe combined immunodeficiency?

Answer 18

Low T cells and also low B cells with hypogammaglobulinemia. Prevents differentiation of stem cells into lymphocytes

Question 19

What causes SCID?

Answer 19

cytokine receptor deficiency (impacts T cell development and is X-linked)
OR
ADA deficiency impacts immature lymphocytes (autosomal recessive)

Question 20

How do you test for the presence of autoimmune disorders?

Answer 20

Isohemmagglutinin testing. These isohemagglutinins cross react with A or B

Question 21

What is Wiskott-Aldrich syndrome?

Answer 21

X linked recessive disorder causing low IgM, normal IgG, elevated IgA and IgE
Causes thrombocytopenia, eczema and immune deficiency

Question 22

What is the most common type of complement deficiency?

Answer 22

C2 deficiency

Question 23

What are the symptoms of C2 deficiency?

Answer 23

No increased risk of infection, but there is an increased risk of SLE like autoimmune disease

Question 24

What are the symptoms of a C3 deficiency?

Answer 24

Increased risk of bacterial infection

Question 25

What are the symptoms of a C5-9 deficiency?

Answer 25

Increased susceptibility to neisseria

Question 26

What does C1 inhibitor deficiency look like?

Answer 26

Episodic edema of skin and mucosal surfaces due to stressor trauma. Caused by unregulated C1

Question 27

What are secondary causes of immunodeficiency?

Answer 27

``` Chemotherapy Cancer AIDS (infections) Renal disease Diabetes ```

Question 28

What is used to diagnose HIV?

Answer 28

p24 capsid antibodies

Question 29

What are the products yielded by HIV viral protease?

Answer 29

gag and pol

Question 30

When can you detect HIV viremia?

Answer 30

Less than 1 week after primary infection

Question 31

Describe how cells are infected by HIV

Answer 31

gp120 binds CD4 receptor and chemokine co-receptors (CCR5 or CXCR4) on T cells, monocytes, macrophages, or dendritic cells This induces a conformational change in gp41 causing fusion

Question 32

When can seroconversion be detected for HIV?

Answer 32

3-7 weeks after initial infection

Question 33

What feature of HIV prevents antibody binding?

Answer 33

glycan shield

Question 34

Why does a high mutation rate aid in the evasion of host cell defenses?

Answer 34

Small changes to sugars and positions prevent detection

Question 35

Describe the clinical course of HIV

Answer 35

1. Initial infection+virema+CTLs rise 2. Antibody to envelope develops 3. Antibody to p24 develops 4. Cd4 cells decline steadily

Question 36

What are category B HIV infections?

Answer 36

Yeast PID Hairy cell leukemia Shingles

Question 37

What are category C AIDs conditions?

Answer 37

cytomegalovirus toxoplasma pneumocystis kaposi sarcoma

Question 38

What are the highest risk groups for HIV?

Answer 38

male to male sexual contact heterosexual female contact heterosexual male contact IV drug use

Question 39

What does gag part of the HIV chromosome do?

Answer 39

Formation of the capsid protein

Question 40

What does the pol part of the HIV chromosome do?

Answer 40

Reverse transcriptase

Question 41

How would you confirm the presence of amyloid?

Answer 41

Through applying congo red dye stains, which turn green under polarized light

Question 42

The fibrils in primary amyloidosis are composed of:

Answer 42

kappa or gamma light chains

Question 43

The fibers in secondary amyloiosis are composed of:

Answer 43

protein A

Question 44

How does amyloid cause disease?

Answer 44

By crowding out normal tissue elements preventing normal function

Question 45

Where would you find an AB amyloid?

Answer 45

CNS only

Question 46

What is the structure of amyloid?

Answer 46

beta pleated sheets conformation

Question 47

Describe the three main types of amyloid:

Answer 47

AL (light chain): Derived from Ig light chains AA (amyloid-associated): "acute phase" amyloid. Associated with chronic inflammation. AB: Produced from beta amyloid intermediate found in alzheimer's disease.

Question 48

What are other amyloid proteins?

Answer 48

1. Mutant transthyretin. Binds and transports thyroxine and retinol 2. Beta-2 microglobulin in hemodialysis patients

Question 49

What causes deposition of AL type amyloids?

Answer 49

Immunocyte dyscrasias

Question 50

Reactive systemic amyloidosis--what kind of fibrils?

Answer 50

AA protein deposition. associated with chronic inflammation like RA, inflammatory bowel disease, etc.

Question 51

Hemodialysis associated amyloiosis:

Answer 51

Beta-2 microglobulin deposition