Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

ACAAI Review 3rd Edition > Ch. 6 Autoinflammatory disorders, Amyloid, Granulomatous, & Transplant > Flashcards

Ch. 6 Autoinflammatory disorders, Amyloid, Granulomatous, & Transplant Flashcards

(73 cards)

Start Studying
1
Q

gene for FMF?

A

MEFV (aut recessive)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

gene for TRAPS?

A

TNFRSF1A (aut dominant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

gene for mevalonate kinase deficiency (hyper IgD syndrome or HIDS)

A

MVK (aut recessive)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

gene for CAPS

A

CIAS1 (aut dominant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

gene for PAPA

A

PSTPIP1 (aut dominant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

gene for DIRA

A

IL1RN (aut recessive) - mutation in the IL-1R antagonist

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

gene for PLAID

A

PLCy2 (aut dominant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

no gene has been associated with PFAPA, how do you diagnose?

A

fever 3-6 days q3-8 weeks, exclude cyclic neutropenia, no URI, and at least one of aphthous stomatitis, exudative tonsillitis (neg culture), cervical lymphadenitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what protein does the MEFV gene produce?

A

pyrin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is the presentation cycle of FMF?

A

fever 12-72 hrs, peritonitis, pleuritis, arthritis, erysipelas like rash

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what is the most serious complication of FMF?

A

amyloidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what are the side effects of colchicine?

A

GI distress, including pain and bleeding.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what is the presentation cycle of TRAPS

A

fever for WEEKS, myalgia, periorbital swelling, conjunctivitis, headache, abdominal pain, pleuritis with effusion, onset USUALLY in ADULTHOOD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Steroids and TNF monoclonal Ab can be used for TRAPS, T or F?

A

FALSE - do not work, worsens the flares, use IL-1 blockers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is the presentation of Hyper IgD syndrome or mevalonate kinase deficiency?

A

INFANCY, fever 3-7 days, painful LAD, aphthous ulcers, abd pain, arthritis, arthralgia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what can trigger the presentation of HIDS or mevalonate kinase deficiency?

A

stress and vaccinations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is the pathologic mechanism by which HIDS is thought to occur?

A

decrease in isoprenoids, such as geranyl pyrophosphate, leads to overproduction of IL-1B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what 3 aut dominant disorders are included in CAPS (cryopyrin-associated periodic syndromes)?

A

CINCA/NOMID
Muckle Wells
FCAS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

FCAS and PLAID urticaria is positive using which test?

A

evaporative cooling test

ice cube test negative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

hearing loss is present in which two forms of FCAS?

A

CINCA/NOMID and Muckle Wells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

the gene defect PSTPIP1 in PAPA (pyogenic sterile arthritis, pyoderma gangrenous, and acne syndrome) codes for?

A

CD2 binding protein 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

presentation of PAPA?

A

early life arthritis, 2nd decade with term symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

presentation of DIRA (deficiency of IL-1R antagonist)

A

neonatal osteomyelitis with rib widening, osteopenia, pustulosis with neutrophil predominance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

PLAID has antibody deficiency and cold urticaria, and this is thought secondary to?

A

diminished signaling at physiologic temp (antibody deficiency) and enhanced signaling at sub physiologic temperatures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
PLAID treatment?
high dose antihistamines for urticaria and IVIG if needed
26
primary amyloidosis involves deposits of what protein?
immunoglobulin light chains
27
secondary amyloidosis is seen associated with RA, IBD, and what periodic syndromes?
FMF, FCAS, Muckle Wells
28
Type I cryoglobulinemia contains what type of immunoglobulin
monoclonal IgM > IgG, IgA or light chains
29
Type II cryoglobulinemia contains what type if immunoglobulin
monoclonal RF (IgM >> IgG)
30
Type III cryoglobulinemia contains what type if immunoglobulin
polyclonal RF (IgM >> IgG)
31
what transcription factor has been implicated in the rise of monoclonal B cells and cryoglobulinemia
BAFF
32
type I cryoglobulinemia is associated with what two conditions?
plasma cell dyscrasias and multiple myeloma
33
type II and III cryoglobulinemia is associated with what condition?
hepatitis C (also HBV, HIV)
34
what are lab markers for granulomas that are not necessarily specific?
high ACE levels, 1,25(OH)2D3, and osteopontin
35
pulmonary function testing in sarcoid shows what pattern
restriction
36
granulomas in sarcoid show what Th pattern
Th1 non-caseating granuloma
37
what is Lofgren's syndrome
self limited (3 months) of bilateral hilar adenopathy, erythema nodosum, arthritis/arthralgia
38
Where are the parenchymal features and nodules in sarcoidosis compared to GLILD?
sarcoid involves upper lung and nodules are hilar, perilymphatic and micronodular. GLILD involves lower lung zones and nodules are large and random
39
what is a characteristic feature of GLILD which is rarely seen in sarcoidosis?
bronchiectasis
40
BAL CD4/CD8 ratio in sarcoid?
elevated CD4/CD8
41
BAL CD4/CD8 ratio in HP?
decreased CD4/CD8 (CD8 predominance)
42
berylliosis results from environmental exposure to?
beryllium (electronics and space industries)
43
what organs are involved in GPA (Wegener's)
sinus, lung, kidney
44
what antigen is most commonly present in GPA?
c-ANCA, anti-PR3 antibody
45
how does EGPA (Churg Strauss) present?
asthma, allergic rhinitis, then eosinophilia, vasculitis is a later finding
46
HLA-G and HLA-F function?
expressed on extra villous trophoblast, role to protect fetus from maternal immune rejection
47
direct allorecognition is?
when recipient T cell recognizes donor MHC presenting donor Ag
48
indirect allorecognition is?
when recipient T cell recognized recipient MHC presenting donor Ag
49
which solid organ transplants do NOT require immunosuppression?
cornea, bone, and joint tissues
50
hyper acute solid organ rejection is due to?
pre-existing Ab usually due to ABO incompatibility
51
accelerated solid organ rejection is due to?
pre-existing Ab due to minor antigens within 2-5 days
52
acute solid organ transplant rejection is due to?
CD8+T cells directly kill and cell inflammation, after 7 day to 3 months
53
chronic solid organ transplant rejection is due to
delayed type hypersensitivity like reaction CD4+ T cells resulting in fibrosis, smooth muscle proliferation, occlusion
54
the mixed leukocyte reaction is used to measure?
presence of host versus graft or graft versus host reaction
55
for umbilical cord, what is considered a match?
6 out of 6 at A, B, and DRB1 alleles
56
for adult donors, a match is considered to be?
6 out of 8 match, A, B, C, and DRB1 (note 10 allele matches are more common, adding DQ)
57
what CD marker denotes stem cells
CD34+
58
Which has the higher risk of nonengraftment, matched cord or matched unrelated?
matched unrelated
59
what is the order in ascending risk for allogeneic transplant?
syngeneic < matched 1 degree relative < matched cord < matched unrelated < mismatched cord < mismatched unrelated
60
what is the survival rate of SCID stem cell transplant prior to 2 months?
95%, after 2 months survival rate declines rapidly
61
what is the graft versus leukemia effect?
graft/donor T cells eradicate the recipient tumor
62
how does donor NK cells mediate killing of leukemic cells?
donor NK cells do not recognize the HLA I expressed on leukemic cells and therefore kill them (KIR on NK is not inhibited)
63
what are the important cytokines in GVHD
IL-10, TNFa, IFNy
64
what cell is involved in acute GVHD?
CD45RO+ T cells and neutrophils
65
what cell is involved in chronic GVHD?
CD4+ T cells
66
presentation of acute GVH?
maculopapular rash, watery diarrhea, abdominal pain, ileum, fever, cholestatic hyperbilirubinemia
67
the major factor in long term survival in SCT is?
chronic GVH reaction
68
what complication is associated with conditioning therapy and drug toxicity in SCT?
sinusoidal obstruction syndrome (bilirubin>2mg/dL, hepatomegaly, ascites)
69
which cell type takes the longest to engraft?
umbilical cord cells
70
ABPA criteria for IgE in CF?
IgE>2400 ng/mL (>1000 IU/mL) when off steroids
71
what level is diagnostic for a sweat chloride test in infants and children?
>60mEq/L
72
maternal IgG is transplacentally transferred in which trimester?
3rd trimester
73
the nadir of maternal IgG in infants is around what month?
3-6 months

ACAAI Review 3rd Edition (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions