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A&I > Specific Diagnosis Modalities > Flashcards

Specific Diagnosis Modalities Flashcards

1
Q

name 6 important mediators involved in early phase IgE-mediated reaction

A
  • histamine
  • tryptase
  • chymase
  • carboxypeptidase
  • substance P
  • calcitonin gene-related peptide (CGRP)
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2
Q

testing for which allergens may come back positive in patients with shellfish allergy? (2)

A

DM and cockroach (tropomyosin)

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3
Q

what is the highest concentration of venom intradermal skin tests?

A

1 mcg/mL

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4
Q

what constitutes a significant bronchodilator response in adults?

A

increase in FEV1 >12% and ≥200

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5
Q

what are some factors that increase FeNO (7)

A
  • asthma
  • atopy
  • URIs
  • age >12yo
  • COPD exacerbation
  • nonasthmatic eosinophilic bronchitis
  • arginine or nitrite/nitrate rich foods
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6
Q

factors that decrease FeNO (8)

A
  • bronchiectasis
  • tobacco smoke
  • drugs (steroids, anti-leukotriene agents, oxymetazoline, NOS inhibitors)
  • exercise
  • moderate altitude
  • hypothermia
  • alcohol
  • caffeine
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7
Q

is DLCO reduced in asthma?

A

No (usually high)

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8
Q

name some allergic diseases with an elevated total IgE (5)

A
  • ABPA
  • AFRS
  • eczema
  • allergic rhinitis
  • EGPA
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9
Q

what can a negative DTH (delayed type hypersensitivity) test mean? (2)

A
  • lack of exposure to the tested antigen
  • anergy as a result of either primary or secondary cellular immunodeficiency
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10
Q

which organs have the highest concentrations of IgE-producing plasma cells? (2)

A

tonsils and adenoids

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11
Q

which part of the back has greater skin reactivity for skin testing?

A

upper back

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12
Q

what conditions can cause a false positive airway hyperresponsiveness? (7)

A
  • allergic rhinitis
  • COPD
  • congestive heart failure
  • cystic fibrosis
  • siblings of asthmatics
  • URI
  • smoking
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13
Q

what is the name given to multiple clumps of sloughed surface epithelial cells that may be seen in asthmatics?

A

Creola bodies

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14
Q

in which condition is there a lack of dynein arms and loss of ciliary spikes?

A

PCD (loss of synchronized ciliary movt)

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15
Q

how long does omalizumab-related suppression of SPT last?

A

4 weeks to 6 months

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16
Q

in allergy skin testing, what causes wheal and flare?

A

Wheal: histamine -> smooth muscle contraction -> increased vascular permeability
Flare: inflammatory mediators -> vasodilation

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17
Q

What is normal FEF50/FIF50? what is its significance?

A
  • normal is <1
  • FEF50/FIF50 >1 indicates extrathoracic obstruction
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18
Q

what is the half-life of free IgE in the serum?

A

about 2 days

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19
Q

what is the gold standard for the diagnosis of occupational rhinitis?

A

Direct nasal challenge

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20
Q

which serum protein fraction is elevated in multiple myeloma?

A

gamma

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21
Q

which complement deficiencies would result in low CH50 and AH50?

A

C3, 5, 6, 7, 8, 9

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22
Q

which test can be used to detect both excess antibody and excess antigen?

A

ELISA

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23
Q

what antibody is most associated with renal disease in SLE?

A

anti-dsDNA

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24
Q

plasmapheresis is indicated as treatment for the immunologic neuropathy associated with which antibody?

A

Anti-ganglioside antibody (Guillain Barre)

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25
Q

which immunoglobulins do not activate classical complement?

A

IgA, IgE, IgG4

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26
Q

what complement factors will inhibit the formation of immune complexes?

A

Factor H or I

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27
Q

what type of immune complexes are formed at the zone of equivalence?

A

single antibody binds to two antigens, forming large insoluble lattices (ie, can increase turbidity of solution, appear as precipitin lines)

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28
Q

what is zone of antibody excess?

A

complexes exist as single antibody to single antigen

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29
Q

to what RBC cell surface receptor does the opsonin C3b on immune complexes bind for transport to the liver?

A

C3b binds to CR1 (aka CD35 or C3b receptor) on RBC

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30
Q

what cell surface marker is present on activated, degranulating basophils?

A

CD63

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31
Q

what leukotrienes are measured by ELISA?

A

LTC4, LTD4, LTE4

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32
Q

How is tryptase measured?

A

fluoroenzyme immunoassay (FEIA)

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33
Q

what to forward scatter and side scatter measure in flow cytometry?

A

Forward scatter: size
Side scatter: granularity and complexity

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34
Q

what cell surface molecules are absent, as evidenced on flow cytometry, in a patient with X linked agammaglobulinemia? (2)

A

CD19 and 20

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35
Q

what is the most common method used for quantifying IgG, IgA, IgM and inflammatory markers?

A

Nephelometry (scattered light to determine turbidity)

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36
Q

what testing method can be used to confirm monoclonal gammopathy and determine heavy or light-chain class type?

A

immunofixation electrophoresis

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37
Q

what testing method is used for component resolved diagnostics (ie, food component testing)?

A

microarray (chip technology)

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38
Q

which autoAb are associated with neonatal lupus?

A

anti-SSA (Ro) and Anti-SSB (La) – also present in Sjogren’s

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39
Q

Which autoAb is associated with eosinophilic granulomatosis with polyangiitis (EGPA or Churg-Strauss)?

A

p-ANCA (MPO)

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40
Q

what is the name for abnormal bipyramidal crystals of eosinophil lysophospholipase and metachromatic cells found in sputum of patients with asthma?

A

Charcot-Leyden crystals

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41
Q

which gene demonstrates increased expression in asthmatics and is upregulated in neutrophilic and eosinophilic asthma phenotypes in mouse models?

A

the mucin gene (MUC5AC)

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42
Q

which airway epithelial cells secrete mucus in response to environmental stimuli?

A

Goblet cells

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43
Q

which disease results in accumulation of abnormal mucus despite normal ciliary clearance?

A

Cystic fibrosis

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44
Q

what cell surface marker differentiates naive from activated or memory T cells?

A

CD45RA - naive T cells
CD45RO -activated or memory T cells

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45
Q

Which PID is associated with defective CD40 and which is associated with defective CD40L?

A

CD40L - X linked hyper-IgM syndrome type 1
CD40 - AR hyper-IgM syndrome type 3

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46
Q

what naive T cell marker is low or absent in pt with SCID?

A

CD45RA

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47
Q

what is the CD marker for FcgammaRII?

A

CD32

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48
Q

what is a characteristic cell surface marker of memory B cells?

A

CD27

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49
Q

what is the CD marker for CD40L expressed on T cells?

A

CD154

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50
Q

what CD marker differentiates NK cells from NKT cells?

A

CD3 is present on NKT cells, but not on NK cells

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51
Q

which complement receptor is also known as CD11c/CD18?

A

CR4

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52
Q

what cell surface marker is deficient in paroxysmal nocturnal hemoglobinuria?

A

CD55 or decay accelerating factor (DAF)

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53
Q

what cell surface marker leading to apoptosis is defective in ALPS?

A

CD95 or Fas

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54
Q

EBV and HHV-6 bind to what cell surface marker?

A

CD21 (aka CR2 or C3d)

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55
Q

what cell surface marker does rhinovirus bind to? Adenovirus?

A

Rhinovirus - CD54
Adenovirus - CD46

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56
Q

what defect is associated with leukocyte adhesion deficiency (LAD) type 1?

A

Defect in common beta chain in CD18

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57
Q

what defect is associated with LAD type 2?

A

fucosylation defects, leading to sLEX ligand (CD15a) defect

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58
Q

mature tryptase levels are elevated in what condition?

A

mature tryptase is elevated in anaphylaxis, but NOT in systemic mastocytosis

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59
Q

which immunoglobulins have the highest avidity for C1q and complement activation?

A

IgM > IgG3 > IgG1 > IgG2

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60
Q

what are the uses of intracellular flow cytometry?

A

assess cellular function
- neutrophil oxidative burst
- phosphorylation
- calcium reflux
- cytokine production

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61
Q

Tregs display which cell surface markers?

A

CD3+ CD25+ FoxP3+

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62
Q

CD41+ CD61+ surface markers would be found on which cell population?

A

platelets

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63
Q

which CD marker is elevated in HLH?

A

CD25

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64
Q

CD45 is defective in which form of SCID

A

T-B+NK- SCID

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65
Q

what is the function of CLA-1 on T cells?

A

mediates homing to skin

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66
Q

which mitogens stimulate T cells? (3)

A

pokeweed, phytohemagglutinin, concanavalin A

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67
Q

which mitogens stimulate B cells? (4)

A

pokeweed, lipopolysaccharide, staph aureus and Cowan

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68
Q

what are flow cytometry findings in ADA deficiency?

A

low CD19, CD3 and CD56

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69
Q

which antigen recognized by B cells is T cell independent?

A

pneumococcal antigen

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70
Q

which PID has recurrent pyogenic infections without abscess formation?

A

LAD

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71
Q

Giant azurophilic lysosomal granules in granulated cells are characteristic of which PID?

A

Chediak Higashi

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72
Q

which screening test can distinguish among X linked, autosomal and X linked carrier forms of CGD?

A

Dihydrorhodamine 123 test

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73
Q

what is the main reactive nitrogen intermediate produced by macrophages?

A

nitric oxide

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74
Q

which test for CGD diagnosis is mostly a qualitative measurement of NADPH oxidase activity? which test is mostly quantitative?

A

NBT is mostly qualitative.
DHR is quantitative

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75
Q

does type III hypersensitivity occur with antigen or antibody excess?

A

Ag excess.
- results in small immune complexes that do NOT fix complement and are NOT cleared from circulation, leading to deposition in glomeruli, vessels, and joints

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76
Q

which complement factors are evaluated by CH50?

A

C1-9.
- does not assess for Factor B, D or properdin

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77
Q

what is the C1q binding assay useful for measuring?

A

circulating immune complexes

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78
Q

Which complement deficiency will have a normal AH50 and low CH50?

A

C4

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79
Q

Which complement deficiency will 90% of patients develop SLE?

A

C1q/r/s deficiency

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80
Q

the suffix -ximab refers to which type of mab?

A

chimeric mab

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81
Q

which monoclonal antibody decreases high-affinity IgE receptors on basophils?

A

Omalizumab

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82
Q

Hybridomas are created by combining which cells?

A

Immunized mice and myeloma cells lacking HGPRT

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83
Q

How does PCR work?

A

it is an enzyme-driven technique that uses oligonucleotide primers to rapidly amplify short regions of DNA in vitro

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84
Q

what is a TREC

A

T cell receptor excision circles are extra chromosomal DNA byproducts, created during T cell receptor rearrangement during development

85
Q

what diseases can be screened from a TREC assay? (3)

A

SCID
22q11 deletion
Trisomy 21

86
Q

what is the mechanism of action of benralizumab?

A

binds to IL-5R and induce ADCC (antibody dependent cell mediated cytotoxicity)

87
Q

what is the target for dupilumab and what cytokines does it inhibit?

A

targets IL-4Ralpha
IL-4 and 13

88
Q

what is the difference between dim and bright CD56 cells?

A

CD56dim - mature NK cells
CD56bright - immature NK cells

89
Q

a mutation in LYST (lysosomal trafficking protein) can result in which PIDD?

A

Chediak Higashi

90
Q

The presence of C1 inhibitor autoantibody can be found in which disease?

A

Acquired angioedema

91
Q

What disorder of chemotaxis results in Pectum carinatum, skeletal dysostosis, pancreatic insufficiency?

A

Shwachman-Diamond syndrome

92
Q

the presence of C1q autoantibody can be found in which disease?

A

hypocomplementemic urticarial vasculitis syndrome

93
Q

what gene defect results in cNKD (classical NK cell deficiency) that is autosomal dominant?

A

GATA2

94
Q

what is the preferred laboratory method for evaluating NK cell cytotoxicity?

A

Chromium release assay

95
Q

is whole exome sequencing performed using the Sanger method or next-generation sequencing?

A

next-generation sequencing

96
Q

what do each of southern, northern and western blotting techniques detect?

A

Southern - DNA sequences
Northern - RNA seq
Western - protein expression

97
Q

what are some diseases that can be detected by FISH (6)

A

Prader-Willi, Angelman, 22q11.2 deletion, Cri-du-chat, Down synd, acute lymphoblastic leukemia, etc

98
Q

How is histocompatibility testing performed for a bone marrow transplant with an unrelated donor?

A

Molecular typing, which includes PCR.
Serologic typing is not considered sufficient for unrelated donors.

99
Q

What HLA types are considered in histocompatibility matching for transplants? Which allele can be mismatched?

A

HLA types A, B, C, DRB1, DQB1 are considered.
DQ1 mismatch is considered permissible

100
Q

what are examples of diseases that can be detected by Western blotting

A

HIV and Lyme

101
Q

what can microarrays be used to detect? (4)

A
  • gene expression patterns
  • single-nucleotide polymorphisms (SNPs)
  • chromosomal abnormalities (ie, T21)
  • genotype mutations (ie, ataxia telangiectasia)
102
Q

Age is an important factor when interpreting food specific serum IgE with which particular food allergies?

A

Milk, egg
peanut in children b/w 6-12mo with AD and egg allergy

103
Q

what is the differential diagnosis of hilar lymphadenopathy

A

sarcoidosis, infection, malignancy, hypersensitivity pneumonitis (silicosis, berylliosis), CHF

104
Q

Central bronchiectasis is found on CT of chest in which condition?

A

ABPA

105
Q
A

vocal cord dysfunction

106
Q
A

fixed upper airway obstruction (tracheal stenosis, goiters)

107
Q
A

variable intrathoracic obstruction (ie tracheomalacia)

108
Q
A

restrictive pattern

109
Q
A

obstructive pattern

110
Q

significant response to a bronchodilator in adults (2)

A

increase in FEV1 >12% AND >200mL

111
Q

dose severity of airway hyperresponsiveness correlate with severity of asthma?

A

No

112
Q
A

Nephelometry determination of serum Igls

113
Q
A

Radial Immunodiffusion

114
Q
A

Laurell rocket eletroimmunoassay

115
Q
A

Ouchterlony’s double-immunodiffusion method

116
Q
A

Enzyme linked Immunosorbent assay (ELISA)

117
Q

autoAb for neonatal lupus (2)

A

Anti-SSA/RO and anti-SSB/La

118
Q

autoAb for SLE (3)

A

ANA, anti-dsDNA, anti-Smith

119
Q

autoAb for drug induced lupus

A

anti-histone

120
Q

autoAb for RA (2)

A

RF and anti-CCP

121
Q

autoAb for antiphospholipid syndrome (4)

A
  • lupus anticoagulant
  • anticardiolipin IgG/M
  • anti-b2GPI
  • ANA
122
Q

autoAb for Sjogren’s syndrome (3)

A

ANA
anti SSA
anti SSB

123
Q

autoAb for systemic sclerosis (4)

A

anticentromere
anti-topoisomerase I
anti RNA polymerase I or III
anti fibrillarin

124
Q

autoAb for CREST

A

anti centromere

125
Q

autoAb for polymyositis/dermatomyositis (4)

A

ANA
anti-Jo 1
anti signal-recognition particle Ab
anti PM-Scl Ab

126
Q

autoAb for primary biliary cirrhosis

A

anti mitochondrial Ab

127
Q

autoAb for Crohn’s

A

anti saccharomyces cerevisiae (ASCA)

128
Q

autoAb for UC

A

p-ANCA

129
Q

autoAb for GPA

A
  • c ANCA (p ANCA can be positive)
130
Q

autoAb for Goodpasture’s syndrome (2)

A

anti glomerular basement membrane
ANCA

131
Q

autoAb for EGPA

A

p ANCA

132
Q

autoAb for pemphigus vulgaris

A

anti desmoglein 3

133
Q

autoAb for pemphigus foliaceous

A

anti desmoglein 1

134
Q

autoAb for linear IgA disease

A

IgA against basement membrane zone

135
Q

autoAb for pemphigoid (3)

A

against BMZ - BP 230, 180, and hemidesmosomal Ag

136
Q

cell surface markers of stem cells (1)

A

CD34

137
Q

cell surface markers of WBC

A

CD45

138
Q

cell surface markers of granulocytes (2)

A

CD45+, CD15+

139
Q

cell surface markers of monocytes (2)

A

CD45+ CD14+

140
Q

cell surface markers of T cells (3)

A

CD45+ CD2+ or CD3+

141
Q

cell surface markers of Treg (3)

A

CD3+ CD25+ FoxP3+

142
Q

cell surface markers of B cells (5)

A

CD45+ CD19+ CD20+ CD21+ CD81+

143
Q

cell surface markers of naive mature B cell (3)

A

CD19+ surface IgM+ sIgD+

144
Q

cell surface markers of mature B cell (2)

A

CD19+ CD21+

145
Q

cell surface markers of memory B cell (2)

A

CD19+ CD27+

146
Q

cell surface markers of switched memory B cell (4)

A

CD19+ CD27+ sIgM- sIgD-

147
Q

cell surface markers of plasma cell (3)

A

CD19+ CD27+ CD38+

148
Q

cell surface markers of NK cells (4)

A

CD45+ CD2+ CD16+ or CD56+

149
Q

cell surface markers of NKT cells (3)

A

Cd45+ CD3+ CD16+ or CD56+

150
Q

cell surface markers of platelet (2)

A

CD41+ CD61+

151
Q

CD3 expression and function (3)

A
  • expressed on T and NKT cells (NOT on B or NK cells)
  • required for TCR expression and signal transduction
  • defects cause T- B+NK+ SCID
152
Q

CD21 - other names (2), expression (2), function (4)

A
  • CR2, C3d receptor
  • expressed on mature B cells and follicular DC
  • binds EBV, HHV8, C3d and Cd23
153
Q

another name for CD23

A

FceRII (low affinity IgE receptor)

154
Q

another name for CD117

A

c-kit

155
Q

defect in common beta chain of CD18 leads to

A

LAD type 1

156
Q

which cell surface adhesion molecule mediates homing of T cells to skin?

A

CLA-1

157
Q

CD80 and CD86 bind to which receptors? (2)

A

CD28 for costimuation
CTLA-4 for inhibition

158
Q

PDL1 and 2 bind to which receptors (2)

A

ICOS for costimuation
PD-1 for inhibition

159
Q

ICOS binds to which ligands (3)

A

ICOS-L, PDL1, PDL2 for cositmulation

160
Q

another name and function for FcgRI

A

CD64
phagocytosis

161
Q

another name and function for FcgRIIA

A

CD32, phagocytosis

162
Q

another name and function for FcgRIIB

A

CD32B, feedback inhibition of APCs

163
Q

another name and function for FcgRIIIA

A

CD16A, ADCC

164
Q

another name and function for FcgRIIIB

A

CD16B, phagocytosis

165
Q

FceRI location (2), function (2) and its ligand (2)

A

mast cells, basophils
degranulation, Ag uptake
binds to IgE with high affinity, binding site for Omalizumab

166
Q

FceRII, another name, location (2), function and its ligand

A

CD23
B cells, eos
function not well known.
binds to IGE with low affinity

167
Q

another name for CR2

A

CD21

168
Q

CCR3 ligands (6) and its function

A

CCL5 (RANTES)
CCL7 (MCP-3)
CCL8 (MCP-2)
CCL11 (eotaxin-1)
CCL13 (MCP4)
CCL26 (eotaxin-3)
- implicated in allergic disease

169
Q

CCR4 ligands (2) and its function

A

CCL17 (TARC)
CCL22 (MDC)
- T cell trafficking

170
Q

CCR5 ligands (6) and its function (2)

A
  • CCL3 (MIP1a)
    CCL4 (MIP1b)
    CCL5 (RANTES)
    CCL11 (eotaxin-1)
    CCL14 (HHC-1)
    CCL16 (HHC-4)
  • cell trafficking and HIV coreceptor
171
Q

CCR7 ligands (2) and its function

A

CCL19, CCL21
naive T cell and DC trafficking to LN

172
Q

CXCR4 ligand (1) and its function (2)

A

CXCL12 (SDF-1)
B cell development and HIV coreceptor

173
Q

CXCR5 ligands (1) and its function

A

CXCL13 (BCA-1)
Home to B-T junction in LN

174
Q

XCR1 ligand and its function

A

XCL1 (lymphotactin)
T and NK cell recruitment

175
Q

coreceptors for HIV entry in to CD4+ T cells (2)

A

CCR5 and CXCR4

176
Q
A

Top left = IgD-CD27+ switched memory B cells
Top right = IgD+CD27+ unswitched memory B cells
Bottom right = IgD+CD27- naive B cells

177
Q

Emapalumab target antigen

A

IFN gamma

178
Q

Ipilimumab target antigen

A

CTLA-4

179
Q

southern blot mechanism and example

A
  • DNA probe to detect specific DNA sequences
  • gold standard for detecting T cell clonality in lymphoma/leukemia
180
Q

northern blot mechanism and example

A
  • DNA probe to detect specific RNA sequences
  • used more in research
181
Q

Western blot mechanism and example

A
  • gel electrophoresis to separate proteins by size and shape
  • HIV and Lyme disease
182
Q

Fluorescent in situ hybridization mechanism

A

Fluorescence-labeled DNA probes to detect specific DNA sequences

183
Q
A

Haller cell

184
Q
A

concha bullosa

185
Q
A

odoni cell

186
Q

95% PPV for egg

A

<2yo: IgE >2 kUa/L. SPT >7mm
>2yo: IgE > 7. SPT >8

187
Q

95% PPV for milk

A

<2yo: IgE >5. SPT> 8
>2yo: IgE >15. SPT >8

188
Q

95% PPV for peanut

A

IgE >14

189
Q

95% PPV for fish

A

IgE >20

190
Q

75% PPV for soy

A

IgE >30

191
Q

75% PPV for wheat

A

IgE >26

192
Q

95% PPV for tree nuts

A

IgE >15

193
Q

what should be done after a negative DBPCFC for full eval of food allergy?

A

open food challenge

194
Q

What is the recommended time interval between doses during an OFC?

A

20-30 minutes

195
Q

For spirometry results to be considered reproducible, what is the maximum volume error?

A

150 mL

196
Q

What is the most typical change seen on the inspiratory flow loop in vocal cord dysfunction?

A

Partial truncation of the inspiratory flow loop

197
Q

Which measurement is best to detect subtle airflow limitations on spirometry?

A

FEV1

198
Q

classic findings for ABPA on chest CT (3)

A
  • central bronchiectasis
  • transient pulm infiltrates (esp upper lobes)
  • “finger-in-glove” mucous impaction
199
Q

which devices can be used to sample indoor allergens? (2)

A
  • Anderson cascade impactor (sieve impactor)
  • Settle plates (sedimentation and gravitational sampling)
200
Q

deficiency of which erythrocyte-bound receptor results in decreased clearance of immune complexes from circulation?

A

CR1 (CD35)
- function: phagocytosis, cofactor for cleavage of C3b and C4b, clears immune complexes

201
Q

Which condition results in the largest immune complex lattice formations?

A

Zone of Ag/Ab equivalence

202
Q

Which condition results in the formation of the most pathogenic immune complexes?

A

Zone of moderate antigen excess

203
Q

Does Montelukast interfere with SPT interpretation?

A

No

204
Q

indication for chromosomal microarray (2)

A
  • initial test for nonspecific phenotype
  • complement exome sequencing
205
Q

strengths and weaknesses of chromosomal microarray (3 each)

A
  • Strengths: detects missing or extra chromosomal material, deletions and duplications
  • Weakness: poor detection of point mutations, very small duplications/deletions, translocations or inversions
206
Q

indication for exome sequencing (2)

A
  • complex phenotypes
  • complements chromosomal microarray
207
Q

Strengths and weaknesses of exome sequencing (2/5)

A
  • Strengths: discovery of novel phenotype-associated genes. results can be reanalyzed in the future
  • Weakness: more expensive. higher prob of finding VUSes. only ~2% of human genome. no coverage of noncoding regions, poor detection of large insertions/deletions and copy number variants.
208
Q

weaknesses of genome sequencing (2)

A
  • most expensive
  • higher likelihood of finding VUS.

A&I (10 decks)

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