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

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

Flashcards in Ch. 6 Autoinflammatory disorders, Amyloid, Granulomatous, & Transplant Deck (73):
1

gene for FMF?

MEFV (aut recessive)

2

gene for TRAPS?

TNFRSF1A (aut dominant)

3

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

MVK (aut recessive)

4

gene for CAPS

CIAS1 (aut dominant)

5

gene for PAPA

PSTPIP1 (aut dominant)

6

gene for DIRA

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

7

gene for PLAID

PLCy2 (aut dominant)

8

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

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

9

what protein does the MEFV gene produce?

pyrin

10

what is the presentation cycle of FMF?

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

11

what is the most serious complication of FMF?

amyloidosis

12

what are the side effects of colchicine?

GI distress, including pain and bleeding.

13

what is the presentation cycle of TRAPS

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

14

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

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

15

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

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

16

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

stress and vaccinations

17

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

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

18

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

CINCA/NOMID
Muckle Wells
FCAS

19

FCAS and PLAID urticaria is positive using which test?

evaporative cooling test
(ice cube test negative)

20

hearing loss is present in which two forms of FCAS?

CINCA/NOMID and Muckle Wells

21

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

CD2 binding protein 1

22

presentation of PAPA?

early life arthritis, 2nd decade with term symptoms

23

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

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

24

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

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

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