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

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

1
Q

gene for FMF?

A

MEFV (aut recessive)

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2
Q

gene for TRAPS?

A

TNFRSF1A (aut dominant)

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3
Q

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

A

MVK (aut recessive)

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4
Q

gene for CAPS

A

CIAS1 (aut dominant)

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5
Q

gene for PAPA

A

PSTPIP1 (aut dominant)

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6
Q

gene for DIRA

A

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

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7
Q

gene for PLAID

A

PLCy2 (aut dominant)

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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

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9
Q

what protein does the MEFV gene produce?

A

pyrin

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10
Q

what is the presentation cycle of FMF?

A

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

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11
Q

what is the most serious complication of FMF?

A

amyloidosis

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12
Q

what are the side effects of colchicine?

A

GI distress, including pain and bleeding.

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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

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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

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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

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16
Q

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

A

stress and vaccinations

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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

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18
Q

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

A

CINCA/NOMID
Muckle Wells
FCAS

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19
Q

FCAS and PLAID urticaria is positive using which test?

A

evaporative cooling test

ice cube test negative

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20
Q

hearing loss is present in which two forms of FCAS?

A

CINCA/NOMID and Muckle Wells

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21
Q

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

A

CD2 binding protein 1

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22
Q

presentation of PAPA?

A

early life arthritis, 2nd decade with term symptoms

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23
Q

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

A

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

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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

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25
Q

PLAID treatment?

A

high dose antihistamines for urticaria and IVIG if needed

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26
Q

primary amyloidosis involves deposits of what protein?

A

immunoglobulin light chains

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27
Q

secondary amyloidosis is seen associated with RA, IBD, and what periodic syndromes?

A

FMF, FCAS, Muckle Wells

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28
Q

Type I cryoglobulinemia contains what type of immunoglobulin

A

monoclonal IgM > IgG, IgA or light chains

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29
Q

Type II cryoglobulinemia contains what type if immunoglobulin

A

monoclonal RF (IgM&raquo_space; IgG)

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30
Q

Type III cryoglobulinemia contains what type if immunoglobulin

A

polyclonal RF (IgM&raquo_space; IgG)

31
Q

what transcription factor has been implicated in the rise of monoclonal B cells and cryoglobulinemia

A

BAFF

32
Q

type I cryoglobulinemia is associated with what two conditions?

A

plasma cell dyscrasias and multiple myeloma

33
Q

type II and III cryoglobulinemia is associated with what condition?

A

hepatitis C (also HBV, HIV)

34
Q

what are lab markers for granulomas that are not necessarily specific?

A

high ACE levels, 1,25(OH)2D3, and osteopontin

35
Q

pulmonary function testing in sarcoid shows what pattern

A

restriction

36
Q

granulomas in sarcoid show what Th pattern

A

Th1 non-caseating granuloma

37
Q

what is Lofgren’s syndrome

A

self limited (3 months) of bilateral hilar adenopathy, erythema nodosum, arthritis/arthralgia

38
Q

Where are the parenchymal features and nodules in sarcoidosis compared to GLILD?

A

sarcoid involves upper lung and nodules are hilar, perilymphatic and micronodular. GLILD involves lower lung zones and nodules are large and random

39
Q

what is a characteristic feature of GLILD which is rarely seen in sarcoidosis?

A

bronchiectasis

40
Q

BAL CD4/CD8 ratio in sarcoid?

A

elevated CD4/CD8

41
Q

BAL CD4/CD8 ratio in HP?

A

decreased CD4/CD8 (CD8 predominance)

42
Q

berylliosis results from environmental exposure to?

A

beryllium (electronics and space industries)

43
Q

what organs are involved in GPA (Wegener’s)

A

sinus, lung, kidney

44
Q

what antigen is most commonly present in GPA?

A

c-ANCA, anti-PR3 antibody

45
Q

how does EGPA (Churg Strauss) present?

A

asthma, allergic rhinitis, then eosinophilia, vasculitis is a later finding

46
Q

HLA-G and HLA-F function?

A

expressed on extra villous trophoblast, role to protect fetus from maternal immune rejection

47
Q

direct allorecognition is?

A

when recipient T cell recognizes donor MHC presenting donor Ag

48
Q

indirect allorecognition is?

A

when recipient T cell recognized recipient MHC presenting donor Ag

49
Q

which solid organ transplants do NOT require immunosuppression?

A

cornea, bone, and joint tissues

50
Q

hyper acute solid organ rejection is due to?

A

pre-existing Ab usually due to ABO incompatibility

51
Q

accelerated solid organ rejection is due to?

A

pre-existing Ab due to minor antigens within 2-5 days

52
Q

acute solid organ transplant rejection is due to?

A

CD8+T cells directly kill and cell inflammation, after 7 day to 3 months

53
Q

chronic solid organ transplant rejection is due to

A

delayed type hypersensitivity like reaction CD4+ T cells resulting in fibrosis, smooth muscle proliferation, occlusion

54
Q

the mixed leukocyte reaction is used to measure?

A

presence of host versus graft or graft versus host reaction

55
Q

for umbilical cord, what is considered a match?

A

6 out of 6 at A, B, and DRB1 alleles

56
Q

for adult donors, a match is considered to be?

A

6 out of 8 match, A, B, C, and DRB1 (note 10 allele matches are more common, adding DQ)

57
Q

what CD marker denotes stem cells

A

CD34+

58
Q

Which has the higher risk of nonengraftment, matched cord or matched unrelated?

A

matched unrelated

59
Q

what is the order in ascending risk for allogeneic transplant?

A

syngeneic < matched 1 degree relative < matched cord < matched unrelated < mismatched cord < mismatched unrelated

60
Q

what is the survival rate of SCID stem cell transplant prior to 2 months?

A

95%, after 2 months survival rate declines rapidly

61
Q

what is the graft versus leukemia effect?

A

graft/donor T cells eradicate the recipient tumor

62
Q

how does donor NK cells mediate killing of leukemic cells?

A

donor NK cells do not recognize the HLA I expressed on leukemic cells and therefore kill them (KIR on NK is not inhibited)

63
Q

what are the important cytokines in GVHD

A

IL-10, TNFa, IFNy

64
Q

what cell is involved in acute GVHD?

A

CD45RO+ T cells and neutrophils

65
Q

what cell is involved in chronic GVHD?

A

CD4+ T cells

66
Q

presentation of acute GVH?

A

maculopapular rash, watery diarrhea, abdominal pain, ileum, fever, cholestatic hyperbilirubinemia

67
Q

the major factor in long term survival in SCT is?

A

chronic GVH reaction

68
Q

what complication is associated with conditioning therapy and drug toxicity in SCT?

A

sinusoidal obstruction syndrome (bilirubin>2mg/dL, hepatomegaly, ascites)

69
Q

which cell type takes the longest to engraft?

A

umbilical cord cells

70
Q

ABPA criteria for IgE in CF?

A

IgE>2400 ng/mL (>1000 IU/mL) when off steroids

71
Q

what level is diagnostic for a sweat chloride test in infants and children?

A

> 60mEq/L

72
Q

maternal IgG is transplacentally transferred in which trimester?

A

3rd trimester

73
Q

the nadir of maternal IgG in infants is around what month?

A

3-6 months

ACAAI Review 3rd Edition (9 decks)

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