Autoimmune Diseases

Question 1

What are the two factors necessary for developing an autoimmune disease?

Answer 1

1) genetic susceptibility

2) environmental trigger

Question 2

What are the four ways infection can cause loss of self-tolerance?

Answer 2

1) upregulate costimulators on APCs
2) express antigens that look like self
3) polyclonal B cell activation
4) tissue injury releases altered self antigens that activate T cells

Question 3

If left untreated, what is the clinical outcome of immune mediated inflammation?

Answer 3

irreversible tissue damage

Question 4

What is the mechanism of pathogenesis in SLE?

Answer 4

antinuclear antibodies form immune complexes that lodge in tissues and cause multi-organ tissue damage

Question 5

Malar rash, discoid rash, non-erosive arthritis, renal dysfunction, and hematologic disorders are signs of what autoimmune disorder?

Answer 5

SLE

also see photosensitivity and proteinuria, blood: neutropenia, lymphocytopenia, thrombocytopenia, leukopenia, anemia

Question 6

Citrullinated proteins lead to T cell activation and cytokine release, followed by B cell activation creating a pannus in a joint in what disorder?

Answer 6

RA

Question 7

What is the autoantibody specific to RA and what does it have affinity for?

Answer 7

IgM rheumatoid factor which binds the Fc portion of IgG

Question 8

Sjogren’s syndrome is the immune mediated destruction of what structures?

Answer 8

lacrimal and salivary glands

Question 9

What are the symptoms of Sjogren’s syndrome?

Answer 9

keratoconjunctivitis-dry eyes, dry mouth, lymphocytic inflammation, fibrosis of the lacrimal and salivary glands

Question 10

A diagnosis of Sjogren’s syndrome means your patient has a higher risk of developing what cancer?

Answer 10

marginal zone lymphoma

Question 11

What are the two types of systemic sclerosis/scleroderma and what differentiates them?

Answer 11

diffuse (widespread skin, early visceral)

limited (skin fingers only, late visceral)

Question 12

CREST syndrome is associated with what autoimmune disease? What does CREST stand for?

Answer 12

systemic sclerosis/scleroderma

calcinosis, reynaud’s syndrome, esophageal dysmotility, sclerodactyly, telangiectasia

Question 13

What are the symptoms for dermatomyositis?

Answer 13

violaceous heliotropic rash on upper eyelids
muscle weakness/myalgia
lung disease
vasculitis
myocarditis

Question 14

After diagnosing a patient with dermatomyositis, what should you do?

Answer 14

scan for likely cancer

Question 15

What causes dermatomyositis?

Answer 15

activation of T cells in small blood vessels in the muscles and CT causing myocyte atrophy and muscle fiber necrosis

Question 16

What is the cause of polymyositis and how is it different from dermatomyositis?

Answer 16

T cell activation from Jo 1 autoantibodyleades to inflammation around muscles fibers but no atrophy or vascular injury

Question 17

What is the defining characteristic of Mixed CT disease?

Answer 17

presence of the anti-U1RNP antibody

Question 18

Match the autoantibody to the disease it causes:

1) cyclic citrullinated peptide Ab
2) SSA/RO and SSB/LA
3) Jo 1
4) Scl70
5) anti-dsDNA and Sm and Ribosome P

Answer 18

1) RA
2) sjogren’s
3) polymyositis
4) scleroderma
5) SLE

Question 19

What is the difference between a primary and secondary immunodeficiency?

Answer 19

primary is genetically determined and in infants 6mo-2yrs

seconday is a result of cancer, infection, malnutrition, immunosuppression

Question 20

What are three factors that should give you a high index of suspicion for an immunodeficiency?

Answer 20

1) opportunistic infection
2) clinical /family history
3) FTT

Question 21

If you run lab tests for B cell function, T cell function, phagocytic function, and complement, what would you be checking for?

Answer 21

an immunodeficiency 
B= Ig 
T= CBC + flow cytometry 
phago= CBC + blood smear
complement= CH50

Question 22

What is the genetic defect in X linked agammaglobulinemia?

Answer 22

mutation in X linked Bruton’s tyrosine kinase means B cells can’t mature

Question 23

In what immunodeficiency do you see a lack of IgA?

Answer 23

Isolated IgA deficiency

Question 24

Lab results with normal or increased IgM, little to no IgG, and no IgA or IgE with normal T cells would lead you to what cause?

Answer 24

mutation in x linked recessive gene for CD40 so CD4 T cells can’t activate B cells and macrophages and there is no class switching

Question 25

What is DiGeorge syndrome?

Answer 25

3rd and 4th pharyngeal pouches don’t develop due to a deletion on 22q11 so there is no thymus or parathyroid

Question 26

Finding a mutation in the gene for the x linked gamma chain subunit for cytokine receptor or in the gene for Adenosine deaminase would mean the patient has what immunodeficiency?

Answer 26

SCID

normal B cells, decreased T cells, decreased Ig

Question 27

What is the defect in Wiscott Aldrich syndrome?

Answer 27

mutation in gene for x-chromosone linked WASP (links membrane receptors to cytoskeletal elements)

Question 28

What would you expect to see in labs for someone with Ataxia telangiectasia?

Answer 28

decreased Ig M/G/A/E
decreased T cell function
genetic tests: mutation in DNA repair enzyme

Question 29

What is Chediak Higashi syndrome?

Answer 29

CHS1/LYST vesicle trafficking regulatory protein deficiency