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AAAAI Board Review Course > Clinical Science I & II > Flashcards

Clinical Science I & II Flashcards

1
Q

Which IL receptors are use common gamma chain?

A

2,4,7,9,15,21

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2
Q

What is lymphotoxin and what produces it?

A

similar to TNF, but doesn’t exist as a membrane bound form; only produced by lymphocytes

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3
Q

What is the main function of IL-18?

A

activate macrophages

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4
Q

Which cytokine is essential for differentiation and proliferation of NK cells?

A

IL-15

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5
Q

What is the function of APRIL and BAFF?

A

supports B cell proliferation and maturation

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6
Q

What is the function of TSLP and what cell type produces it?

A

activates dendritic and other APCs; produced by stromal cells

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7
Q

Why does IL-7R alpha defect lead to SCID?

A

IL-7 induces proliferation of B, T and NK cells

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8
Q

How does a T cell assure that only specific cells expand?

A

antigen binds to Ab -> prod of IL-1 and IL-6 -> induces IL-2 and IL-2R

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9
Q

What is the phenotype of ADA and reticular dysgenesis SCID?

A

T-B-NK-

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10
Q

What is the phenotype of RAG-1/RAG-2, Artemis, Cernunnos and ligase IV SCID?

A

T-B-NK+

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11
Q

What is the phenotype of JAK3, common gamma chain SCID?

A

T-B+NK-

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12
Q

What is the phenotype of IL-7R alpha SCID?

A

T-B+NK+

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13
Q

Which PID is associated with progressivvve T cell loss and decreased levels of uric acid?

A

PNP deficiency

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14
Q

What is the defect in WHIM syndrome?

A

autosomal dominant gain of function in CXCR4

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15
Q

Which PID has petechiae, eczema, and small platelets?

A

Wiscott-Aldrich syndrome

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16
Q

Which PID is associated with increased alpha-fetoprotein?

A

ataxia telangiectasia

17
Q

What causes Hyper IgM syndrome?

A

defect in CD40 or CD40L - B cells can’t isotype switch

18
Q

Which PID is due to inability to produce NF-KappaB?

A

NEMO

19
Q

Which disease is characterized by increased alpha beta double negative T cells?

A

ALPS

20
Q

Which disease is due to FAS mutation with increased vitamin B12 and IL-10?

A

ALPS

21
Q

Mucocutaneous candidiasis seen in APECED is due to autoantibodies to what?

A

IL-17 and IL-22

22
Q

What is the function of BTK?

A

phosphorylates PLC-gamma2

23
Q

mutations in TACI and BAFF cause what disease?

A

CVID (but not all with mutation have CVID)

24
Q

Mutations in AID and UNG lead to what?

A

Hyper IgM syndrome

25
Q

What types of infections are more common in C5-C9 deficiency?

A

Nisseria

26
Q

What disease is due to NK and CTL inability to release lytic granules for cytotoxicity?

A

hematophagocytic lymphohistiocytosis (HLH)

27
Q

Chediak Higashi syndrome is due to a defect in what gene?

A

LYST - inability to generate normal lytic granules

28
Q

What is the cellular problem in Hermansky Pudlak syndrome?

A

inappropriate formation of lytic granules and movement along microtubulesf

29
Q

Mutations in LYST cause what to happen in granulocytes?

A

primary and secondary granules fuse, get giant granules- Chediak Higashi

30
Q

What are the pathognomonic infections of CGD?

A

Chromobacterium violaceum, francisella philomiragia, granulibacter bethesdensis

31
Q

Why are granulomas formed in CGD?

A

unable to degrade inflammatory mediators

32
Q

What medications are contraindicated in CGD?

A

TNF blockers

33
Q

What is the protein defect in LAD2?

A

CD15s

34
Q

What is the mutation in JOB syndrome?

A

gp130

35
Q

What is the mutation in hyper IgE syndrome?

A

STAT3

36
Q

Which PID is associated with HPV and molluscum contagiosum?

A

DOCK8

37
Q

What distinguishes STAT3 from DOCK8 mutations Hyper IgE syndromes clinically?

A

DOCK8 have viral infections and allergies, not STAT3

38
Q

Disseminated mycobacterial infections are characteristic of what?

A

interferon gamma receptor 1 defect

AAAAI Board Review Course (7 decks)

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