Clinical Science III & IV Flashcards

1
Q

Familial Mediterranean fever syndrome is associated with mutations in what?

A

MEFV - codes for pyrin

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2
Q

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

A

TNFRSF1A - encodes the p55 TNF receptor

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3
Q

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

A

Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS)

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4
Q

What is Muckle-Wells syndrome?

A

fever, urticarial rash, arthritis, deafness, amyloidosis

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5
Q

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

A

PFAPA - periodic fever with aphthous stomatitis, pharyngitis and adenitis

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6
Q

What is Behcet’s disease

A

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

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7
Q

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

A

less than 200, 200-499, more than 500

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8
Q

What should be used to test infants for HIV?

A

non-Ab based assays

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9
Q

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

A

Myasthenia Gravis; ACh receptor

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10
Q

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

A

campylobacter; Anti-GM1

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11
Q

What is the target for T cells in multiple sclerosis?

A

myelin sheath epitopes

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12
Q

What autoantibody is associated with Hashimoto’s thyroiditis?

A

anti-TPO and thyroglobulin

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13
Q

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

A

Adrenal cortex 21 hydroxylase Ab - IgG1

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14
Q

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

A

PTPN22

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15
Q

What antibody subclass is associated with Sjogren’s?

A

IgG4

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16
Q

What autoantibody is associated with ITP?

A

anti glycoprotein IIb/IIIa

17
Q

Which vaccines are live?

A

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

18
Q

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

A

bullous pemphigoid

19
Q

Why do blisters form in bullous pemphigoid?

A

autoantibodies to BM acitvate complement

20
Q

Which blistering rash has flaccid bullae and + Nikolsky sign?

A

pemphigus vulgaris

21
Q

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

A

pemphigus

22
Q

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

A

bullous pemphigoid

23
Q

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

A

lidocaine and mepivicaine

24
Q

What is the most common cosmetic preservative contact allergen?

A

quarternium 15

25
Q

What is the contact allergen in permed hair?

A

glycerol thioglycolate

26
Q

Which contact allergens may have delayed positive patch tests?

A

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

27
Q

What are the target antigens in bullous pemphigoid?

A

BP180 and BP230

28
Q

What are the target antigens in pemphigus vulgaris?

A

desmoglein1 and 3

29
Q

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

A

EBV