Specific Diagnosis Modalities Flashcards
(208 cards)
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)
2
Q
testing for which allergens may come back positive in patients with shellfish allergy? (2)
A
DM and cockroach (tropomyosin)
3
Q
what is the highest concentration of venom intradermal skin tests?
A
1 mcg/mL
4
Q
what constitutes a significant bronchodilator response in adults?
A
increase in FEV1 >12% and ≥200
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
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
7
Q
is DLCO reduced in asthma?
A
No (usually high)
8
Q
name some allergic diseases with an elevated total IgE (5)
A
- ABPA
- AFRS
- eczema
- allergic rhinitis
- EGPA
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
10
Q
which organs have the highest concentrations of IgE-producing plasma cells? (2)
A
tonsils and adenoids
11
Q
which part of the back has greater skin reactivity for skin testing?
A
upper back
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
13
Q
what is the name given to multiple clumps of sloughed surface epithelial cells that may be seen in asthmatics?
A
Creola bodies
14
Q
in which condition is there a lack of dynein arms and loss of ciliary spikes?
A
PCD (loss of synchronized ciliary movt)
15
Q
how long does omalizumab-related suppression of SPT last?
A
4 weeks to 6 months
16
Q
in allergy skin testing, what causes wheal and flare?
A
Wheal: histamine -> smooth muscle contraction -> increased vascular permeability
Flare: inflammatory mediators -> vasodilation
17
Q
What is normal FEF50/FIF50? what is its significance?
A
- normal is <1
- FEF50/FIF50 >1 indicates extrathoracic obstruction
18
Q
what is the half-life of free IgE in the serum?
A
about 2 days
19
Q
what is the gold standard for the diagnosis of occupational rhinitis?
A
Direct nasal challenge
20
Q
which serum protein fraction is elevated in multiple myeloma?
A
gamma
21
Q
which complement deficiencies would result in low CH50 and AH50?
A
C3, 5, 6, 7, 8, 9
22
Q
which test can be used to detect both excess antibody and excess antigen?
A
ELISA
23
Q
what antibody is most associated with renal disease in SLE?
A
anti-dsDNA
24
Q
plasmapheresis is indicated as treatment for the immunologic neuropathy associated with which antibody?
A
Anti-ganglioside antibody (Guillain Barre)
25
which immunoglobulins do not activate classical complement?
IgA, IgE, IgG4
26
what complement factors will inhibit the formation of immune complexes?
Factor H or I
27
what type of immune complexes are formed at the zone of equivalence?
single antibody binds to two antigens, forming large insoluble lattices (ie, can increase turbidity of solution, appear as precipitin lines)
28
what is zone of antibody excess?
complexes exist as single antibody to single antigen
29
to what RBC cell surface receptor does the opsonin C3b on immune complexes bind for transport to the liver?
C3b binds to CR1 (aka CD35 or C3b receptor) on RBC
30
what cell surface marker is present on activated, degranulating basophils?
CD63
31
what leukotrienes are measured by ELISA?
LTC4, LTD4, LTE4
32
How is tryptase measured?
fluoroenzyme immunoassay (FEIA)
33
what to forward scatter and side scatter measure in flow cytometry?
Forward scatter: size
Side scatter: granularity and complexity
34
what cell surface molecules are absent, as evidenced on flow cytometry, in a patient with X linked agammaglobulinemia? (2)
CD19 and 20
35
what is the most common method used for quantifying IgG, IgA, IgM and inflammatory markers?
Nephelometry (scattered light to determine turbidity)
36
what testing method can be used to confirm monoclonal gammopathy and determine heavy or light-chain class type?
immunofixation electrophoresis
37
what testing method is used for component resolved diagnostics (ie, food component testing)?
microarray (chip technology)
38
which autoAb are associated with neonatal lupus?
anti-SSA (Ro) and Anti-SSB (La) -- also present in Sjogren's
39
Which autoAb is associated with eosinophilic granulomatosis with polyangiitis (EGPA or Churg-Strauss)?
p-ANCA (MPO)
40
what is the name for abnormal bipyramidal crystals of eosinophil lysophospholipase and metachromatic cells found in sputum of patients with asthma?
Charcot-Leyden crystals
41
which gene demonstrates increased expression in asthmatics and is upregulated in neutrophilic and eosinophilic asthma phenotypes in mouse models?
the mucin gene (MUC5AC)
42
which airway epithelial cells secrete mucus in response to environmental stimuli?
Goblet cells
43
which disease results in accumulation of abnormal mucus despite normal ciliary clearance?
Cystic fibrosis
44
what cell surface marker differentiates naive from activated or memory T cells?
CD45RA - naive T cells
CD45RO -activated or memory T cells
45
Which PID is associated with defective CD40 and which is associated with defective CD40L?
CD40L - X linked hyper-IgM syndrome type 1
CD40 - AR hyper-IgM syndrome type 3
46
what naive T cell marker is low or absent in pt with SCID?
CD45RA
47
what is the CD marker for FcgammaRII?
CD32
48
what is a characteristic cell surface marker of memory B cells?
CD27
49
what is the CD marker for CD40L expressed on T cells?
CD154
50
what CD marker differentiates NK cells from NKT cells?
CD3 is present on NKT cells, but not on NK cells
51
which complement receptor is also known as CD11c/CD18?
CR4
52
what cell surface marker is deficient in paroxysmal nocturnal hemoglobinuria?
CD55 or decay accelerating factor (DAF)
53
what cell surface marker leading to apoptosis is defective in ALPS?
CD95 or Fas
54
EBV and HHV-6 bind to what cell surface marker?
CD21 (aka CR2 or C3d)
55
what cell surface marker does rhinovirus bind to? Adenovirus?
Rhinovirus - CD54
Adenovirus - CD46
56
what defect is associated with leukocyte adhesion deficiency (LAD) type 1?
Defect in common beta chain in CD18
57
what defect is associated with LAD type 2?
fucosylation defects, leading to sLEX ligand (CD15a) defect
58
mature tryptase levels are elevated in what condition?
mature tryptase is elevated in anaphylaxis, but NOT in systemic mastocytosis
59
which immunoglobulins have the highest avidity for C1q and complement activation?
IgM > IgG3 > IgG1 > IgG2
60
what are the uses of intracellular flow cytometry?
assess cellular function
- neutrophil oxidative burst
- phosphorylation
- calcium reflux
- cytokine production
61
Tregs display which cell surface markers?
CD3+ CD25+ FoxP3+
62
CD41+ CD61+ surface markers would be found on which cell population?
platelets
63
which CD marker is elevated in HLH?
CD25
64
CD45 is defective in which form of SCID
T-B+NK- SCID
65
what is the function of CLA-1 on T cells?
mediates homing to skin
66
which mitogens stimulate T cells? (3)
pokeweed, phytohemagglutinin, concanavalin A
67
which mitogens stimulate B cells? (4)
pokeweed, lipopolysaccharide, staph aureus and Cowan
68
what are flow cytometry findings in ADA deficiency?
low CD19, CD3 and CD56
69
which antigen recognized by B cells is T cell independent?
pneumococcal antigen
70
which PID has recurrent pyogenic infections without abscess formation?
LAD
71
Giant azurophilic lysosomal granules in granulated cells are characteristic of which PID?
Chediak Higashi
72
which screening test can distinguish among X linked, autosomal and X linked carrier forms of CGD?
Dihydrorhodamine 123 test
73
what is the main reactive nitrogen intermediate produced by macrophages?
nitric oxide
74
which test for CGD diagnosis is mostly a qualitative measurement of NADPH oxidase activity? which test is mostly quantitative?
NBT is mostly qualitative.
DHR is quantitative
75
does type III hypersensitivity occur with antigen or antibody excess?
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
76
which complement factors are evaluated by CH50?
C1-9.
- does not assess for Factor B, D or properdin
77
what is the C1q binding assay useful for measuring?
circulating immune complexes
78
Which complement deficiency will have a normal AH50 and low CH50?
C4
79
Which complement deficiency will 90% of patients develop SLE?
C1q/r/s deficiency
80
the suffix -ximab refers to which type of mab?
chimeric mab
81
which monoclonal antibody decreases high-affinity IgE receptors on basophils?
Omalizumab
82
Hybridomas are created by combining which cells?
Immunized mice and myeloma cells lacking HGPRT
83
How does PCR work?
it is an enzyme-driven technique that uses oligonucleotide primers to rapidly amplify short regions of DNA in vitro
84
what is a TREC
T cell receptor excision circles are extra chromosomal DNA byproducts, created during T cell receptor rearrangement during development
85
what diseases can be screened from a TREC assay? (3)
SCID
22q11 deletion
Trisomy 21
86
what is the mechanism of action of benralizumab?
binds to IL-5R and induce ADCC (antibody dependent cell mediated cytotoxicity)
87
what is the target for dupilumab and what cytokines does it inhibit?
targets IL-4Ralpha
IL-4 and 13
88
what is the difference between dim and bright CD56 cells?
CD56dim - mature NK cells
CD56bright - immature NK cells
89
a mutation in LYST (lysosomal trafficking protein) can result in which PIDD?
Chediak Higashi
90
The presence of C1 inhibitor autoantibody can be found in which disease?
Acquired angioedema
91
What disorder of chemotaxis results in Pectum carinatum, skeletal dysostosis, pancreatic insufficiency?
Shwachman-Diamond syndrome
92
the presence of C1q autoantibody can be found in which disease?
hypocomplementemic urticarial vasculitis syndrome
93
what gene defect results in cNKD (classical NK cell deficiency) that is autosomal dominant?
GATA2
94
what is the preferred laboratory method for evaluating NK cell cytotoxicity?
Chromium release assay
95
is whole exome sequencing performed using the Sanger method or next-generation sequencing?
next-generation sequencing
96
what do each of southern, northern and western blotting techniques detect?
Southern - DNA sequences
Northern - RNA seq
Western - protein expression
97
what are some diseases that can be detected by FISH (6)
Prader-Willi, Angelman, 22q11.2 deletion, Cri-du-chat, Down synd, acute lymphoblastic leukemia, etc
98
How is histocompatibility testing performed for a bone marrow transplant with an unrelated donor?
Molecular typing, which includes PCR.
Serologic typing is not considered sufficient for unrelated donors.
99
What HLA types are considered in histocompatibility matching for transplants? Which allele can be mismatched?
HLA types A, B, C, DRB1, DQB1 are considered.
DQ1 mismatch is considered permissible
100
what are examples of diseases that can be detected by Western blotting
HIV and Lyme
101
what can microarrays be used to detect? (4)
- gene expression patterns
- single-nucleotide polymorphisms (SNPs)
- chromosomal abnormalities (ie, T21)
- genotype mutations (ie, ataxia telangiectasia)
102
Age is an important factor when interpreting food specific serum IgE with which particular food allergies?
Milk, egg
peanut in children b/w 6-12mo with AD and egg allergy
103
what is the differential diagnosis of hilar lymphadenopathy
sarcoidosis, infection, malignancy, hypersensitivity pneumonitis (silicosis, berylliosis), CHF
104
Central bronchiectasis is found on CT of chest in which condition?
ABPA
105
vocal cord dysfunction
106
fixed upper airway obstruction (tracheal stenosis, goiters)
107
variable intrathoracic obstruction (ie tracheomalacia)
108
restrictive pattern
109
obstructive pattern
110
significant response to a bronchodilator in adults (2)
increase in FEV1 >12% AND >200mL
111
dose severity of airway hyperresponsiveness correlate with severity of asthma?
No
112
Nephelometry determination of serum Igls
113
Radial Immunodiffusion
114
Laurell rocket eletroimmunoassay
115
Ouchterlony's double-immunodiffusion method
116
Enzyme linked Immunosorbent assay (ELISA)
117
autoAb for neonatal lupus (2)
Anti-SSA/RO and anti-SSB/La
118
autoAb for SLE (3)
ANA, anti-dsDNA, anti-Smith
119
autoAb for drug induced lupus
anti-histone
120
autoAb for RA (2)
RF and anti-CCP
121
autoAb for antiphospholipid syndrome (4)
- lupus anticoagulant
- anticardiolipin IgG/M
- anti-b2GPI
- ANA
122
autoAb for Sjogren's syndrome (3)
ANA
anti SSA
anti SSB
123
autoAb for systemic sclerosis (4)
anticentromere
anti-topoisomerase I
anti RNA polymerase I or III
anti fibrillarin
124
autoAb for CREST
anti centromere
125
autoAb for polymyositis/dermatomyositis (4)
ANA
anti-Jo 1
anti signal-recognition particle Ab
anti PM-Scl Ab
126
autoAb for primary biliary cirrhosis
anti mitochondrial Ab
127
autoAb for Crohn's
anti saccharomyces cerevisiae (ASCA)
128
autoAb for UC
p-ANCA
129
autoAb for GPA
- c ANCA (p ANCA can be positive)
130
autoAb for Goodpasture's syndrome (2)
anti glomerular basement membrane
ANCA
131
autoAb for EGPA
p ANCA
132
autoAb for pemphigus vulgaris
anti desmoglein 3
133
autoAb for pemphigus foliaceous
anti desmoglein 1
134
autoAb for linear IgA disease
IgA against basement membrane zone
135
autoAb for pemphigoid (3)
against BMZ - BP 230, 180, and hemidesmosomal Ag
136
cell surface markers of stem cells (1)
CD34
137
cell surface markers of WBC
CD45
138
cell surface markers of granulocytes (2)
CD45+, CD15+
139
cell surface markers of monocytes (2)
CD45+ CD14+
140
cell surface markers of T cells (3)
CD45+ CD2+ or CD3+
141
cell surface markers of Treg (3)
CD3+ CD25+ FoxP3+
142
cell surface markers of B cells (5)
CD45+ CD19+ CD20+ CD21+ CD81+
143
cell surface markers of naive mature B cell (3)
CD19+ surface IgM+ sIgD+
144
cell surface markers of mature B cell (2)
CD19+ CD21+
145
cell surface markers of memory B cell (2)
CD19+ CD27+
146
cell surface markers of switched memory B cell (4)
CD19+ CD27+ sIgM- sIgD-
147
cell surface markers of plasma cell (3)
CD19+ CD27+ CD38+
148
cell surface markers of NK cells (4)
CD45+ CD2+ CD16+ or CD56+
149
cell surface markers of NKT cells (3)
Cd45+ CD3+ CD16+ or CD56+
150
cell surface markers of platelet (2)
CD41+ CD61+
151
CD3 expression and function (3)
- 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
CD21 - other names (2), expression (2), function (4)
- CR2, C3d receptor
- expressed on mature B cells and follicular DC
- binds EBV, HHV8, C3d and Cd23
153
another name for CD23
FceRII (low affinity IgE receptor)
154
another name for CD117
c-kit
155
defect in common beta chain of CD18 leads to
LAD type 1
156
which cell surface adhesion molecule mediates homing of T cells to skin?
CLA-1
157
CD80 and CD86 bind to which receptors? (2)
CD28 for costimuation
CTLA-4 for inhibition
158
PDL1 and 2 bind to which receptors (2)
ICOS for costimuation
PD-1 for inhibition
159
ICOS binds to which ligands (3)
ICOS-L, PDL1, PDL2 for cositmulation
160
another name and function for FcgRI
CD64
phagocytosis
161
another name and function for FcgRIIA
CD32, phagocytosis
162
another name and function for FcgRIIB
CD32B, feedback inhibition of APCs
163
another name and function for FcgRIIIA
CD16A, ADCC
164
another name and function for FcgRIIIB
CD16B, phagocytosis
165
FceRI location (2), function (2) and its ligand (2)
mast cells, basophils
degranulation, Ag uptake
binds to IgE with high affinity, binding site for Omalizumab
166
FceRII, another name, location (2), function and its ligand
CD23
B cells, eos
function not well known.
binds to IGE with low affinity
167
another name for CR2
CD21
168
CCR3 ligands (6) and its function
CCL5 (RANTES)
CCL7 (MCP-3)
CCL8 (MCP-2)
CCL11 (eotaxin-1)
CCL13 (MCP4)
CCL26 (eotaxin-3)
- implicated in allergic disease
169
CCR4 ligands (2) and its function
CCL17 (TARC)
CCL22 (MDC)
- T cell trafficking
170
CCR5 ligands (6) and its function (2)
- CCL3 (MIP1a)
CCL4 (MIP1b)
CCL5 (RANTES)
CCL11 (eotaxin-1)
CCL14 (HHC-1)
CCL16 (HHC-4)
- cell trafficking and HIV coreceptor
171
CCR7 ligands (2) and its function
CCL19, CCL21
naive T cell and DC trafficking to LN
172
CXCR4 ligand (1) and its function (2)
CXCL12 (SDF-1)
B cell development and HIV coreceptor
173
CXCR5 ligands (1) and its function
CXCL13 (BCA-1)
Home to B-T junction in LN
174
XCR1 ligand and its function
XCL1 (lymphotactin)
T and NK cell recruitment
175
coreceptors for HIV entry in to CD4+ T cells (2)
CCR5 and CXCR4
176
Top left = IgD-CD27+ switched memory B cells
Top right = IgD+CD27+ unswitched memory B cells
Bottom right = IgD+CD27- naive B cells
177
Emapalumab target antigen
IFN gamma
178
Ipilimumab target antigen
CTLA-4
179
southern blot mechanism and example
- DNA probe to detect specific DNA sequences
- gold standard for detecting T cell clonality in lymphoma/leukemia
180
northern blot mechanism and example
- DNA probe to detect specific RNA sequences
- used more in research
181
Western blot mechanism and example
- gel electrophoresis to separate proteins by size and shape
- HIV and Lyme disease
182
Fluorescent in situ hybridization mechanism
Fluorescence-labeled DNA probes to detect specific DNA sequences
183
Haller cell
184
concha bullosa
185
odoni cell
186
95% PPV for egg
<2yo: IgE >2 kUa/L. SPT >7mm
>2yo: IgE > 7. SPT >8
187
95% PPV for milk
<2yo: IgE >5. SPT> 8
>2yo: IgE >15. SPT >8
188
95% PPV for peanut
IgE >14
189
95% PPV for fish
IgE >20
190
75% PPV for soy
IgE >30
191
75% PPV for wheat
IgE >26
192
95% PPV for tree nuts
IgE >15
193
what should be done after a negative DBPCFC for full eval of food allergy?
open food challenge
194
What is the recommended time interval between doses during an OFC?
20-30 minutes
195
For spirometry results to be considered reproducible, what is the maximum volume error?
150 mL
196
What is the most typical change seen on the inspiratory flow loop in vocal cord dysfunction?
Partial truncation of the inspiratory flow loop
197
Which measurement is best to detect subtle airflow limitations on spirometry?
FEV1
198
classic findings for ABPA on chest CT (3)
- central bronchiectasis
- transient pulm infiltrates (esp upper lobes)
- "finger-in-glove" mucous impaction
199
which devices can be used to sample indoor allergens? (2)
- Anderson cascade impactor (sieve impactor)
- Settle plates (sedimentation and gravitational sampling)
200
deficiency of which erythrocyte-bound receptor results in decreased clearance of immune complexes from circulation?
CR1 (CD35)
- function: phagocytosis, cofactor for cleavage of C3b and C4b, clears immune complexes
201
Which condition results in the largest immune complex lattice formations?
Zone of Ag/Ab equivalence
202
Which condition results in the formation of the most pathogenic immune complexes?
Zone of moderate antigen excess
203
Does Montelukast interfere with SPT interpretation?
No
204
indication for chromosomal microarray (2)
- initial test for nonspecific phenotype
- complement exome sequencing
205
strengths and weaknesses of chromosomal microarray (3 each)
- Strengths: detects missing or extra chromosomal material, deletions and duplications
- Weakness: poor detection of point mutations, very small duplications/deletions, translocations or inversions
206
indication for exome sequencing (2)
- complex phenotypes
- complements chromosomal microarray
207
Strengths and weaknesses of exome sequencing (2/5)
- 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
weaknesses of genome sequencing (2)
- most expensive
- higher likelihood of finding VUS.
