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ACAAI BOARD REVIEW BOOK > Ch. 6 Immunologic Disorders > Flashcards

Ch. 6 Immunologic Disorders Flashcards

1
Q

what is the inheritance and gene mutation for hereditary angioedema?

A

AD; mutation of chromosome 11 C1-INH gene (SERPIN1); heterozygous mutations leading to either absent (type I) or non-functional (type II) protein expression

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2
Q

what is the gene mutation associated with normal C1INH and complement levels?

A

mutation of Factor XII gene

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3
Q

what are the two FDA approved plasma-derived C1INH concentrates?

A

Cinryze (approved for long term prophylaxis) and Berinert (for acute attacks)

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4
Q

what therapy for HAE is recombinant C1INH?

A

Ruconest; acute attacks; be cautious in Rabbit allergy

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5
Q

what therapy for HAE has a black box warning?

A

ecallantide (Kalbitor)- kallikrein inhibitor; BBWarning for anaphylaxis in 3-4% of of patients

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6
Q

what is the mechanism of action for icatibant (Firazyr)?

A

bradykinin antagonist (acute attacks); may be associated with MERGX2 receptor

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7
Q

what distinguishes acquired angioedema from hereditary?

A

low C1q level; type I (paraneoplastic) type II (autoantibody)

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8
Q

HIV Co-receptor that is monocyte/macrophage tropic

A

CCR5 (also known as M tropic)

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9
Q

HIV co-receptor that is T cell tropic

A

CXCR4

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10
Q

what adhesion molecule on dendritic cells does the gp10 HIV glycoprotein bind

A

DC-SIGN

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11
Q

what test is used for an HIV exposed infant?

A

HIV DNA PCR; may also be used in acute viral syndrome prior to Ab test accuracy; infants should be tested serially (2-3 wks, 1-2 mos, 4-6 mos); with HIV Ab test at 12-18 mos to definitively rule out.

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12
Q

what can lead to a false positive HIV ELISA (screening test with high sensitivity)?

A

autoimmune disease, multiple pregnancies, multiple transfusions, recent imms. can have false negatives within window period (up to 6 months after being infected)

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13
Q

what is the confirmatory test for ELISA or Rapid HIV test?

A

Western Blot; requires 2 or 3 major bands (anti-p24, anti-gp41, anti-gp160/120

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14
Q

which HIV medication is a strong CYP3A4 and CYP2DG inhibitor that can cause Cushings from intranasal steroids?

A

Ritonavir

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15
Q

what is the HLA type that needs to be screened for prior to initiating abacavir?

A

HLAB*5701

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16
Q

what is immune reconstitution inflammatory syndrome (IRIS)?

A

it is a cytokine storm that develops with CD4 T cells rapidly increase after initiating HIV therapy; may be in response to pre-existing opportunistic infections (PJP, TB, MAC, CMV, herpes)–> need to be controlled prior to initiation of HAART to prevent IRIS?

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17
Q

which chemokine has been heavily implicated in EOE?

A

eotaxin-3 (induced by IL-13); may also be SNP variants in TSLP

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18
Q

what is the negative and positive predictive value of milk SPT in EOE?

A

milk NPV <30%; PPV > 86&; all other foods have poor PPV

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19
Q

features of myeloproliferative HES

A

mostly in males; high risk of cardiac complications; FIP1-> PDGFRA mutations (aka chic 2); deletion on 4q12; jak2 mutation; biomarkers= Increased B12; tryptase may be elevated; first line treatment in chic2 mutation is imatinib (tyrosine kinase inhibitor)

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20
Q

features in lymphocytic HES

A

derm; usually benign, but can progress to T cell lymphoma; T cell polyclonal population (clonal TCR rearrangement) expressing IL-5

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21
Q

what is critical prior to initating empiric treatment with glucocorticoids in HES?

A

rule out and/or empirically treat for Strongyloides prior to systemic GCs

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22
Q

what is urticaria pigmentosa?

A

brownish macules/nodular lesions with characteristic Darier’s sign

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23
Q

what is diffuse cutaneous mastocytosis?

A

thickened, brownish-yellow skin, less likely to have discrete lesions; usually in pediatric population and is outgrown without progression to systemic mastocytosis

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24
Q

what is the molecular pathogenesis of systemic mastocytosis?

A

activating (constitutive) mutation of ckit (e.g. KITD816V); leads to aberrant expression of antiapoptotic proteins (Bcl-2 and Bcl-XL)

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25
Q

what is the CD nomenclature for c-kit and what is the ligand?

A

CD117; binds stem cell factor

26
Q

what are the major and minor criteria for systemic mastocytosis?

A

Major: biopsy with >15 mast cells in aggregates
Minor: >25% with atypical or spindle-shaped morphology; detection of ckitD816V mutation; expression of CD2 or CD25 on CD117+ mast cells (i.e. activation markers), total serum tryptase >20
Need one major or 3 minor

27
Q

what are the urine tests for MCAS?

A

24 urine histamine; PGD2 or its downstream metabolite (11 beta prostaglandin F2alpha)

28
Q

what are two clinical uses for imatinib in allergy/immunology?

A

FIP1L1-PDGFRA mutation in myeloproliferative HES; in systemic mastocytosis (aggressive) WITHOUT ckit mutation

29
Q

under what circumstances do you need to pursue pcn desensitization with syphillis?

A

pregnant patient with syphillis, neurosyphillis, congenital syphillis. In other situations, patients can be treated with doxycycline, azithromycine or ceftriaxone

30
Q

when might you see a false positive non-treponemal test for syphillis?

A

pregnancy, IV drug use, other infections (TB, other treponemes, rickettsia, HIV) or endocarditis

31
Q

what key mediator differences will you see in CRS w NP? W/o NP?

A

With/out: IL-3, GMCSF, PGE2 (down with NP); with=more Th2 skewing so increased ECP, IL5, IgE

32
Q

what is a reed-sternberg cell?

A

B lymphocyte origin (derived from lymph node germinal center); no longer able to express antibodies

33
Q

what is the genetic association of Burkitt lymphoma?

A

c-myc translocation at 8q24

34
Q

what is type I cyroglobulinemia associated with?

A

plasma cell dyscrasia and multiple myeloma

35
Q

what is type II cryoglobulinemia associated with?

A

hep C infection; also find RF+ in types II & III

36
Q

what is the autoAb in primary adrenal failure? what labs would help you identify this disease?

A

auto Ab to CYP21A2 (necessary to make corisone); labs will show low aldosterone and elevated renin

37
Q

what is the autoAb in Type Ia DM

A

anti-GAD65; may be generated in context of infections with coxsackie B4 and enterovirus; genetics DR3, DQ2, DR4, DQ8

38
Q

most common cause of nephrotic syndrome in children?

A

minimal change disease; destruction of foot processes (podocytes); usually benign course with steroid treatment

39
Q

most common cause of nephrotic syndrome in adults

A

membranous nephropathy; primary due to auto Ab against Phospholipase A2 receptor, or secondary to hep b, malaria, syphillis, cancer, drugs, SLE, environmental toxins. results in Ig deposits and complement activation; immunofluorescence of IgG and C3; podocyte effacement

40
Q

PSGN clinical features

A

10-14 days after impetigo or strep pharyngitis; leads to nephritic syndrome; mostly seen in kids, but also diabetics, alcoholics and IV drug users; antigen-antibody complexes are deposited which activates complement; clinically may have positive ASO or anti DNAse B; low C3

41
Q

what is the most common glomerulonephritis in the world?

A

IgA nephropathy; mostly presents with asymptomatic hematuria; IgA is not elevated, but may have elevated circulating polymeric IgA and complexes with IgA

42
Q

most common cause of membranoproliferative glomerulonephritis?

A

mixed cryoglobulinemia due to Hep C

43
Q

what is the Ab detected in anti-glomerular basement membrane disease (aka Goodpastures)?

A

Ab against a3 chain of type IV collagen

44
Q

what disease processes are associated with pauci-immune GN?

A

Wegener’s (granulomatosis polyangiitis), microscopic polyangiitis and eosinophilic granulomatosis polyangiitis (Churg-Strauss)

45
Q

what are the abs against in pemphigus?

A

desmoglein 3 and 1; flaccid bullae formation; +Nicholsky; life-threatening skin loss

46
Q

what are the abs directed against in bullous pemphigoid?

A

BP230 and BP180 (hemidesmosomes)

47
Q

what is the genetic cause of familial mediterranean fever?

A

MEFV (AR), which codes for pyrin

48
Q

what is the genetic cause of TRAPS?

A

TNFRSF1A (AD)

49
Q

what is the genetic cause of HyperIgD (aka mevalonate kinase deficiency)?

A

MVK (AR), involved in cholesterol and steroid synthesis

50
Q

what is the genetic cause of CAPS (cryopyrin associated periodic syndromes)?

A

CIAS1 (AD); encodes NLRP3 gene that makes cryopyrin

51
Q

what is the genetic cause of PAPA (pyogenic arthritis, pyogenic gangrenosum (sterile), acne)?

A

PSTPIP1 (AD) also known as CD2 binding protein 1 leads to prolonged inflammasome activation

52
Q

what is the genetic cause of DIRA (deficiency of IL1 Receptor antagonist) aka deficiency of anakinra?

A

IL1RN (AR); leads to uninhibited activity of IL1

53
Q

what is the genetic cause of PLAID (PLCy2 associated antibody deficiency and immune dysregulation)?

A

PLCy2 (AD), results in diminished signaling at physiologic temps (hypogamm), but enhanced signaling at subphsyiologic temps (cold urticaria)

54
Q

clinical features of PFAPA

A

2-3 days of fever every 3-8 weeks on consistent schedule; apthous ulcers, pharyngitis, stomatitis, cervical lymphadenitis; patients generally outgrow

55
Q

clinical features of MFM? Tx:

A

days of fever with variable frequency and associated with peritonitis, pleuritis, arthritis and erysepalas; 10% can be associated with amyloidosis (most serious complication); colcicine prophylaxis

56
Q

clinical features of TRAPs?

A

weeks of fever; 10% associated with amyloidosis

57
Q

clinical features of HIDs

A

fevers from 3-7 days with painful adenopathy; urticarial like lesions, arthralgias, abdominal pain; vaccine and stress and lead to flares; rare amyloidosis; it is thought that decrease in isoprenoids leads to overproduction of IL1B

58
Q

what are 3 diseases that are considered CAPS?

A

NOMID/CINCA (most severe), muckle wells (moderate) and familial cold-induced autoinflammatory syndrome (mild); get urticarial rashes, fever, sensoneural hearing loss, arthritis, conjunctivitis, amyloidosis; with NOMID can see bone issues, dysmorphism, DD and leptomeningeal inflammation; treat all with IL-1 blockade

59
Q

what are the clinical features of DIRA?

A

neonatal period present with multifocal osteomylelitis and other bone/periosteum issues; skin manifestations with pustulosis with neutrophilic predominance

60
Q

what T cell infiltrative pattern might you expect on BAL of patient with sarcoid?

A

elevated CD4:CD8 ratio, unlike hypersensitivity pneumonitis

61
Q

clinical features of berylliosis?

A

similar to sarcoid, except due to environmental exposure (electronics and space industries)

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