Clinical Science III & IV

Question 1

Familial Mediterranean fever syndrome is associated with mutations in what?

Answer 1

MEFV - codes for pyrin

Question 2

What is the mutation associated with TNF receptor-associated periodic syndrome (TRAPS)?

Answer 2

TNFRSF1A - encodes the p55 TNF receptor

Question 3

Which periodic fever syndrome has cervical adenopathy, elevated Igs, flairs with immunizations, and is due to a mutation in MVK?

Answer 3

Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS)

Question 4

What is Muckle-Wells syndrome?

Answer 4

fever, urticarial rash, arthritis, deafness, amyloidosis

Question 5

Which periodic fever syndrome is associated with aphthous stomatitis, cervical lymphadenitis and pharyngitis with very predictable timing of fevers?

Answer 5

PFAPA - periodic fever with aphthous stomatitis, pharyngitis and adenitis

Question 6

What is Behcet’s disease

Answer 6

recurrent oral and genital ulcers, eye and skin lesions - associated with HLA-B51

Question 7

In HIV, what T cell count indicates deficiency, suppression and competency?

Answer 7

less than 200, 200-499, more than 500

Question 8

What should be used to test infants for HIV?

Answer 8

non-Ab based assays

Question 9

What autoimmune disease is associated with muscle weakness and thymoma? What is the auto-Ab?

Answer 9

Myasthenia Gravis; ACh receptor

Question 10

What infection and autoantibody is associated with Guillain-Barre syndrome?

Answer 10

campylobacter; Anti-GM1

Question 11

What is the target for T cells in multiple sclerosis?

Answer 11

myelin sheath epitopes

Question 12

What autoantibody is associated with Hashimoto’s thyroiditis?

Answer 12

anti-TPO and thyroglobulin

Question 13

What is the autoantibody and subclass associated with Addison’s disease?

Answer 13

Adrenal cortex 21 hydroxylase Ab - IgG1

Question 14

What gene is associated with both DM and Grave’s disease?

Answer 14

PTPN22

Question 15

What antibody subclass is associated with Sjogren’s?

Answer 15

IgG4

Question 16

What autoantibody is associated with ITP?

Answer 16

anti glycoprotein IIb/IIIa

Question 17

Which vaccines are live?

Answer 17

MMR, nasal flu, rotavirus, varicella, typhoid, yellow fever, zoster

Question 18

Which blistering rash is associated with elderly and has tense blisters?

Answer 18

bullous pemphigoid

Question 19

Why do blisters form in bullous pemphigoid?

Answer 19

autoantibodies to BM acitvate complement

Question 20

Which blistering rash has flaccid bullae and + Nikolsky sign?

Answer 20

pemphigus vulgaris

Question 21

Dose bullous pemphigoid or pemphigus have staining in the intercellular area?

Answer 21

pemphigus

Question 22

Dose bullous pemphigoid or pemphigus have staining in the basement membrane?

Answer 22

bullous pemphigoid

Question 23

Which caine medications can patients who are sensitized to benzocaine still use?

Answer 23

lidocaine and mepivicaine

Question 24

What is the most common cosmetic preservative contact allergen?

Answer 24

quarternium 15

Question 25

What is the contact allergen in permed hair?

Answer 25

glycerol thioglycolate

Question 26

Which contact allergens may have delayed positive patch tests?

Answer 26

gold, potassium dichromate, nickel, cobalt, neomycin, bacitracin, topical steroids, PPD

Question 27

What are the target antigens in bullous pemphigoid?

Answer 27

BP180 and BP230

Question 28

What are the target antigens in pemphigus vulgaris?

Answer 28

desmoglein1 and 3

Question 29

The low affinity IgE receptor is also a receptor for which virus?

Answer 29

EBV