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ACAAI Review 3rd Edition > Ch. 6 Immunologic Disorders > Flashcards

Ch. 6 Immunologic Disorders Flashcards

1
Q

what differentiates HAE type I from type II?

A

type II has normal or high C1 inh level

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2
Q

HAE with normal C1 inh is different from HAE I and II how?

A

later onset, more facial and tongue swelling, and associated with factor XII mutation

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3
Q

side effects of androgens for treatment of HAE?

A

hepatotoxicity, dysplipidemia, masculinization, headaches

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4
Q

what C1-inh for long term prophylaxis of HAE

A

cinryze

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5
Q

what plasma-derived C1 inh for acute attacks of HAE

A

berinert

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6
Q

what recombinant C1-inh for acute attacks of HAE?

A

Ruconest (caution in rabbit allergy)

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7
Q

what treatment for acute attacks has black box warning of anaphylaxis?

A

ecallantide (Kalbitor)

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8
Q

mechanism of action of ecallantide?

A

kallikrein inhibitor for acute attacks

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9
Q

mechanism of action of icatibant?

A

bradykinin receptor antagonist for acute attacks

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10
Q

what lab value distinguishes acquired angioedema from hereditary forms?

A

low C1q

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11
Q

acquired angioedema type 1 vs type 2

A

type 1: lymphoproliferative disorders, C1 inh level low due to consumption by neoplasm
type 2: autoAb to C1inh (C1 inh levels normal)

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12
Q

which cytokine receptors have the common gamma chain?

A

IL-2, 4, 7, 9, 15, and 21 receptors

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13
Q

which SCID is X-linked?

A

common gamma chain

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14
Q

common gamma chain and JAK3 deficiency have what lymphocyte phenotype?

A

T-B+NK-

difference is that JAK3 is aut. rec., common gamma chain is x-linked

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15
Q

IL-7Ra and IL-2Ra deficiency have what phenotype?

A

T-B+NK+

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16
Q

CD45 and CD3 deficiency have what lymphocyte phenotype?

A

T-B+NK+

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17
Q

RAG1/2 deficiency lymphocyte phenotype

A

T-B-NK+

NOT radiosensitive

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18
Q

presentation of Omen’s syndrome?

A

erythroderma, eosinophilia, high IgE, FTT, diarrhea

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19
Q

clinical findings in ADA deficiency?

A

skeletal abnormalities, rachitic rosary rib cage, deafness

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20
Q

lymphocyte phenotype in ADA deficiency

A

T-B-NK-

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21
Q

clinical findings in reticular dysgenesis?

A

severe neutropenia, sensorineural deafness, genetic defect: adenylate kinase 2 (AK2)

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22
Q

clinical findings in PNP deficiency?

A

lymphoreticular disease and autoimmune disease

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23
Q

what gene defects result in radiosensitive SCID

A

Artemis, Cernunnos, Ligase IV, and NBS1 (Nijmegen breakage syndrome)

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24
Q

Causes of CD8 lymphopenia

A

MHC I deficiency (TAP1/2 def, tapasin def), Zap70 def

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25
Q

Causes of CD4 lymphopenia

A

MCH II deficiency (bare lymphocyte syndrome), Lck def, HIV

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26
Q

ATM gene function

A

PI3 kinase responsible for DNA repair breaks, hence why radiosensitive

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27
Q

what lab finding is distinguishing/ unique in Ataxia telangiectasia

A

elevated AFP

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28
Q

CD40L and CD40 deficiency have similar presentations but different inheritance pattern how?

A

both have no germinal centers
CD40L = X-linked
CD40 = aut. rec

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29
Q

DiGeroge syndrome features

A

cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, ch 22 defect (22q11.2 deletion)

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30
Q

X-linked hypomorphic mutation in NEMO clinical findings?

A

(ectodermal dysplasia with immunodeficiency) bacterial, opportunistic and mycobacterial infections, reduced sweat, ectodermal dysplasia, conical incisors, hypodontia, nail abnormality, hypotrichosis

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31
Q

LZ-NEMO mutation and what other mutation can result in mycobacterial infections due to poor production of IL-12 and IFNgamma

A

IFNGR1/2 deficiency

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32
Q

STAT 3 deficiency inheritance pattern and findings?

A

aut dominant
recurrent skin/lung abscesses/pneumatoceles, eczema, high IgE, mucocutaneous candidiasis, abnormal facies: prominent mandible, coarse features

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33
Q

DOCK 8 deficiency inheritance pattern and findings

A

aut recessive
severe viral skin infections (HPV, molluscum,etc), severe mucocutaneous candidiasis, eczema, allergies
NO SKELETAL/DENTAL abnormalities

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34
Q

IPEX mutation and inheritance pattern

A

X-linked, FoxP3 mutation

FTT, DM1, cytopenia, rash

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35
Q

XLP mutation?

A

SH2D1A gene encoding SAP

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36
Q

XLP features

A

EBV mononucleosis, HLH

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37
Q

Wiskott Aldrich syndrome features

A

thrombocytopenia + bleeding diathesis, eczema, recurrent infections

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38
Q

XLA mutation and features

A 
Btk mutation (arrest at pre-B cell)
enteroviral encephalitis, no germinal center, no lymph nodes
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39
Q

aut recessive agammaglobulinemia defects?

A

surrogate light chain (mu IgM heavy chain most common, lambda5, V pre-B) Ig alpha, Ig Beta, BLNK

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40
Q

what is Kabuki syndrome

A

mutation in KMT2D

hypogam, cleft palate, abnormal facies, developmental delay

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41
Q

CVID + thymoma is?

A

Good’s syndrome

red cell aplasia, neutropenia, chronic diarrhea

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42
Q

AID and UNG deficiency are hyperIgM syndromes but differ from CD40 and CD40L deficiency how?

A

giant germinal centers (lymphoid hyperplasia and adenopathy) and less severe infections in AID and UNG, absent germinal centers in CD40 and CD40L deficiency

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43
Q

what CD marker is defective in LAD1 and LAD2, respectively?

A

LAD1: CD18,
LAD2: CD15a (Sialyl-Lewis X)

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44
Q

WHIM syndrome features

A

sinopulmonary infection, papillomavirus warts, neutropenia but hyper cellular marrow (myeljkathexis)

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45
Q

WHIM mutation

A

aut dom, CXCR4

warts, hypogam, infection, myeljkathexis

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46
Q

severe congenital neutropenia mutations?

A 
Kostmann syndrome (aut recessive, HAX 1)
Elastase deficiency (aut dominant)
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47
Q

cyclic neutropenia lab findings

A

neutropenia, thrombocytopenia, dec monoctyes, reticulocytes in 21 day cycles, last 3-6 days
defect: ELANE

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48
Q

clinical features of LAD1

A

impaired pus formation, gingivitis, delayed wound healing, necrotic skin, infections (neutrophilia)

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49
Q

clinical features of LAD2

A

developmental delay, microcephaly, and short stature, Bombay phenotype

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50
Q

gene mutation in LAD2?

A

FUCT1 gene (no fucosylation) no Sialyl Lewis X (CD15a), defect in neutrophil rolling

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51
Q

gene mutation in LAD1?

A

ITGB2 gene mutation, common chain of B2 integrin family (CD18) - defect in adhesion
Note: CD18 binds to alpha chain LFA-1/CD11a, Mac-1/CD11b, P150,95/CD11c

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52
Q

clinical feature of LAD3?

A

LAD1 + bleeding diathesis

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53
Q

gene mutation in LAD3?

A

CaDAG-GEF1 ( failure of cytokine activation of integrins), abnormality of Rap GTPase function

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54
Q

genetic mutation in Chediak Higashi?

A

CHS1 gene, LYST protein

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55
Q

presentation of Chediak Higashi

A

oculocutaneous albinism, hypo pigmented skin, iris, hair, recurrent infections, neurologic defects, risk of HLH

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56
Q

appearance of neutrophils in Chediak Higashi?

A

enlarged lysosomal granules in neutrophils, neutropenia

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57
Q

what mutation in CGD is X-linked

A

p91 phox

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58
Q

what mutation in CGD is most common autosomal recessive

A

p47

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59
Q

what mutation in CGD is aut recessive and clinically similar to p91 phox

A

p22 (on membrane like p91 phox)

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60
Q

inheritance pattern of CGD can be determined by what test?

A

DHR fluorescence pattern via flow cytometry

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61
Q

IRAK 4 and MyD88 deficiency presentation

A

pyogenic bacterial infections, septicemia, liver abscess

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62
Q

Diseases that cause primary HLH

A

XLP, familial HLH, Chediak higashi, WAS

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63
Q

mutations in classical NK cell deficiency

A

GATA2 and MCM4

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64
Q

classical NK cell deficiency lab findings

A

low CD16, low NK function

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65
Q

functional NK cell deficiency lab findings

A

normal CD16, low NK function

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66
Q

mutations in functional NK cell deficiency

A

FCRG3A (CD16) mutation

CD16 is the low affinity IgG receptor

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67
Q

all complement deficiencies inherited in autosomal dominant manner except?

A

Properdin which is X-linked

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68
Q

clinical features and lab findings in C1q, C1s, C2, and C4 deficiency

A

sinopulmonary infections, SLE-like, low CH50

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69
Q

clinical features and lab findings in C3 deficiency

A

severe infections, glomerulonephritis, low CH50 and AH50, low C3, C3 nephritic factor, IgG anti-C3 autoab

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70
Q

MBL deficiency presentation

A

asymptomatic, can have autoimmune disease and respiratory infections (lab: low MBL, gene defect MASP2)

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71
Q

terminal complement deficiencies presentation

A

Neisseria infections (low CH50 and low AH50)

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72
Q

alternative pathway factor B, D, and properdin deficiency presentation and lab finding

A

Neisseria, low AH50

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73
Q

Which HIV type is more virulent and constitute the majority of HIV infections globally

A

HIV-1

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74
Q

which type is confined to West Africa

A

HIV-2

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75
Q

HIV proteins that are on the lipid bilayer membrane

A

gp120 and gp41

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76
Q

HIV nucleocapsid protein

A

p24

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77
Q

HIV outer membrane protein surrounding nucleocapsid

A

p17

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78
Q

which HIV protein binds to CD4 and CCR5 or CXCR4?

A

gp120

this will then induce a conformational change in gp41 resulting in HIV fusion with host cell membrane

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79
Q

what is the purpose of reverse transcriptase for HIV?

A

HIV ssRNA turned into dsDNA

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80
Q

integrase in HIV function

A

integrate dsDNA of HIV into host DNA

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81
Q

which coreceptor for HIV is M-tropic (monocytotropic)

A

CCR5

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82
Q

which coreceptor for HIV is T-tropic (T cell lymphotropic)

A

CXCR4

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83
Q

what allelic mutation confers resistance to CCR5 strain?

A

double-allelic CCR5delta32 mutation

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84
Q

what cells does HIV infect?

A

CD4+ T cells, macrophages, and dendritic cells

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85
Q

how does HIV attach to dendritic cells?

A

gp120 can bind to DC-SIGN

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86
Q

what is the most effective adaptive immune response to HIV during the acute phase?

A

cytotoxic T lymphocytes (CTLs)

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87
Q

what are the 3 mechanisms by which CD4+ T cell lymphopenia occurs?

A

direct viral killing of infected cells, apoptosis, and CTL killing of infected cells

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88
Q

CD4 T cell count that defines AIDS

A

CD4 <200 cells/mm3

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89
Q

initial test for HIV is ELISA, confirmatory test is by?

A

Western blot, requires 2 of 3 major bands: anti-p24, anti-gp41, anti-gp160/120

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90
Q

when 2 instances do you use HIV DNA PCR to detect HIV?

A

acute viral syndrome when Ab test is negative and in exposed infants

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91
Q

when do you use HIV RNA PCR?

A

quantify viral load

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92
Q

HIV p24 antigen testing is used for?

A

screening test with ELISA to detect infection sooner than ELISA alone; can also use in neonates or as marker of disease progression and response to treatment

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93
Q

how and when should HIV-1 exposed infants be tested?

A 
via HIV-1 DNA PCR
at birth
within 14-21 days of age
1-2 months of age
4-6 months of age
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94
Q

at what age can you start using ELISA for HIV screening in exposed infants?

A

age 12-18 months, 18 months recommended

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95
Q

which HIV medication is a strong CYP3A4 and CYP2DG inhibitor that can increased ICS and intranasal corticosteroid levels leading to Cushings syndrome?

A

ritonavir

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96
Q

why should patients with a low CD4 count and opportunistic infections at the time of HIV diagnosis receive treatment to control the infection before HAART is initiated?

A

to minimize IRIS (immune reconstitution inflammatory syndrome) when the CD4 count rapidly increases and there is cytokine storm against the infection

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97
Q

medication for prophylaxis for PJP

A

TMP-SMX (CD4<200)

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98
Q

med for prophylaxis for Histo

A

itraconazole (CD4<150)

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99
Q

med for prophylaxis to Coccidioides

A

fluconazole (CD4<250)

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100
Q

med for prophylaxis to Mycobacterium avid complex

A

azithromycin, clarithromycin (CD4<50)

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101
Q

which mediator is implicated in EoE?

A

eotaxin-3

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102
Q

gene association studies have shown SNP variants in what mediator to be over expressed in EoE biopsy tissue?

A

TSLP

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103
Q

what pathologic features are seen on endoscopic exam of the esophagus?

A

strictures, mucosal rings, furrowing, ulceration, white plaques

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104
Q

PPI responsive esophageal eosinophilia features?

A

typical EoE symptom presentation, GERD excluded, and demonstrate clfinicopathologic response to PPIs

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105
Q

diagnosis of EoE?

A

> 15 eosinophils/hpf on biopsy after 8 weeks of PPI therapy

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106
Q

diagnostic criteria for HES?

A

> 1500 eosinophils, end organ dysfunction due to eosinophils, absence of other causes of eosinophilia

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107
Q

descending order of organ involvement at HES presentation?

A

derm > pulm > GI > cardiac > neurologic

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108
Q

common cause of death in HES

A

cardiac disease

acute necrosis, thrombus formation, then fibrosis

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109
Q

myeloproliferative HES is characterized by what lab features

A

finding of FIP1L1-PDGFRA mutation, elevated serum B12, elevated tryptase, cytopenia (anemia and thrombocytopenia)

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110
Q

lymphocytic HES characterized by what lab features

A

clonal TCR rearrangement, aberrant IL-5 producing T cells

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111
Q

what is Gleich syndrome

A

episodic angioedema with eosinophilia

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112
Q

myeloproliferative HES with FIP1L1-PDGFRA mutation can be treated with?

A

imatinib

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113
Q

must rule our or empirically treat what infection before starting systemic corticosteroids for HES?

A

Strongyloides - to avoid disseminated infection

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114
Q

When urticaria and erythema is observed on and around a macule after stroking the lesion

A

Darier’s sign

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115
Q

Which pediatric mastocytosis usually resolves without progression to systemic mastocytosis

A

diffuse cutaneous mastocytosis

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116
Q

Which CM (cutaneous mastocytosis) presents as discrete yellow brown macular-papular or nodular plaque like lesions with characteristic Darier’s sign

A

Urticaria pigmentosa

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117
Q

Which CM presents with diffuse yellow brown thickened skin, no discrete lesions, usually in patients <3 years of age

A

diffuse cutaneous mastocytosis

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118
Q

Which CM is a solitary reddish brown skin lesion that presents in the first 3 months of life and resolves spontaneously

A

Mastocytoma of skin

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119
Q

Which CM presents as macular telangiectasis characterized by increased mast cells around dilated capillaries and venues, typically in adults

A

Telangiectasia muscularis eruptiva perstans

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120
Q

what is the most common form of SM (systemic mastocytosis)

A

indolent systemic mastocytosis

121
Q

what mutation leads to increased number of mast cells

A

KIT D816V - constitutive activation of KIT tyrosine kinase signaling

122
Q

what is the ligand for c-KIT (CD117)

A

stem cell factor

123
Q

mast cells are identified by what markers

A

CD117 (c-kit), coexpression of CD2 and/or CD25

124
Q

diagnosis of CM?

A

focal dense mast cells infiltrates >15 mast cells per cluster or diffuse mast cell infiltrates >20 cells/hpf on skin biopsy; and c-KIT D816V mutation

125
Q

diagnosis of SM?

A

1 major + 1 minor
3 minor
Major: biopsy with multifocal, dense mast cells >15 in aggregates
Minor:
- biopsy with more than 25% of mast cells having spindle shape or atypical morphology
- C-KIT D816V mutation
- expression of CD2 and/or CD25 on CD117+ mast cells
- total serum tryptase >20 ng/mL

126
Q

diagnosis of mast cell activation syndrome

A

symptoms of mast cell activation but fail to meet WHO criteria for diagnosis of SM

127
Q

diagnosis of monoclonal mast cell activation syndrome

A

presence of D816V mutation but does not meet WHO criteria for diagnosis of SM

128
Q

treatment of mastocytosis

A

antihistamines, disodium cromoglycate, Epip, steroids, Gleevec (imatinib) in patients WITHOUT D816V, DEXA, Ca supplementation

129
Q

what bacterias use the Ixodes scapularis as a vector?

A

Borrelia burgdorferi (Lyme), Anaplasma phagocytophilum (Anaplasmosis), Babes microti (Babesiosis)

130
Q

How to diagnose Ehrlichiosis?

A

peripheral smear looking for intraleukocytic morulae

131
Q

what vector does Ehrlichia chaffeensis use?

A

Amblyomma americium (Lone star tick)

132
Q

How to diagnose Babesiosis?

A

microscopy and visualization of parasite on thin smear

133
Q

diagnosis of early localized Lyme disease

A

clinical if erythema migrant present

134
Q

diagnosis of early systemic and late systemic Lyme disease

A

serologic testing (ELISA + Western blot), PCR for either CSF (early) or synovial fluid (late)

135
Q

Where is Lyme, Anaplasmosis, and Babesiosis endemic?

A

Northeast and Midwest

136
Q

Where is Ehrlichiosis endemic

A

SE, south central, and mid-Atlantic region

137
Q

IL-12 and IL-23 secretion by macrophages, monocytes, and dendritic cells stimulate naive T cells to differentiate into what type

A

Th1

138
Q

IL-12 stimulate T cells to produce TNFalpha and IFNgamma via what transcription factor

A

STAT4

139
Q

IFNgamma stimulates the production of IL-12 by macrophages and dendritic cells via what transcription factor?

A

STAT1

140
Q

What anti-TNF medications can cause reactivation of latent TB

A

infliximab (anti-TNF ab), etanercept (TNFa receptor antibody)

141
Q

Defects in IL-12/23-IFN-gamma pathway can lead to?

A

MSMD (Mendelian Susceptibility to Mycobacterial Diseases) and disseminated salmonella can be seen

142
Q

increased mycobacterial infections are seen in these deficiencies

A

IL-12p40, IL-12RB1, IFNgR1, IFNgR2, STAT 1, STAT1 gain of function, NEMO (impaired CD40 dependent IL-12), TYK2 deficiency (AR hyper IgE), IRF8, GATA-2, ISG-15, CYBB

143
Q

viral hepatitis pathogenesis and cell injury is due to?

A

HLA-restricted, virus specific CD8+ T cell lysis of infected hepatocytes and NK cells. Secretion of IFNg and TNFa results in injury

144
Q

diagnosis of hepatitis A infection?

A

serology, IgM and IgG

145
Q

what can be detected during the window period of Hep B infection and suggests an acute infection?

A

IgM HBcAb

146
Q

the presence of what antigen indicates active Hep B liver disease, infectivity, and ongoing HBV DNA replication?

A

HbeAg

147
Q

detection of what Ag after 6 months of acute HBV infection indicates chronic HBV?

A

HbsAg and IgG HBcAb

148
Q

Vaccination of Hep B is denoted by what serologic findings

A

HBsAb ONLY

149
Q

Carrier status of Hep B is denoted by what serologic findings

A

HBsAb and +/-HBsAg, low or normal HBV DNA

150
Q

false positive nontreponemal tests occur in which 4 situations

A

pregnancy, IV drug use, endocarditis, and other infections: TB, nonsyphilis treponema, rickettsia, and HIV

151
Q

false negative nontreponemal tests occur in what 2 situations

A

before formation of Ab to syphilis, or prozone reaction when very high antibody titers are present (needs dilution)

152
Q

why are children younger than age 3 at increased risk of AOM?

A

lack of pneumococcal antibodies and because the horizontal position of the eustachian tub interferes with drainage

153
Q

recurrent AOM is defined by

A

> 3 episodes within 6 months, or >4 episodes in 1 year with at least 1 episode in the last 6 months

154
Q

in neonates, AOM may be caused by

A

Group B Strep

155
Q

most common cause of AOM and acute bacterial rhinosinusitis

A

S. pneumo, H. influenza, M. catarrhalis

156
Q

conjunctivitis with otitis is more likely caused by what organism

A

H.influenzae, needs augmentin

157
Q

treatment of AOM if no recent (last 30 days) beta-lactam therapy, no concomitant purulent conjunctivitis, and no history of recurrent AOM?

A

high dose amoxicillin

158
Q

treatment of AOM if there is recent beta-lactam therapy, or conjunctivitis, or recurrent AOM?

A

high dose amoxicillin-clavulanate

159
Q

treatment of AOM if PCN allergic?

A

if Type I: macrolide or lincosamide

if delayed type: cefdinir, cefuroxime, cefpodoxime, ceftriaxone

160
Q

leading cause of hearing loss in children

A

otitis media with effusion (OME)

161
Q

complications of OME

A

hearing loss, TM retraction, or cholesteatoma

162
Q

antibiotic treatment of choice for acute bacterial sinusitis?

A

amoxicillin-clavulanate

163
Q

if PCN allergic, what abx for acute bacterial sinusitis in adults

A

respiratory fluoroquinolone or doxycycline

164
Q

if PCN allergic, what abx for acute bacterial sinusitis in children

A

clindamycin + 3rd gen cephalosporin

165
Q

recurrent sinusitis definition

A

> 4 episodes of ARS in 1 year

166
Q

aspirin desensitization should be maintained on what dose?

A

650mg twice daily, once stable, then lower to 325mg twice daily

167
Q

what are complications of sinusitis?

A

orbital cellulitis, subperiosteal abscess, cavernous sinus thrombosis, meningitis, subdural or epidural brain abscess, mucocele

168
Q

CRS with nasal polyps have an increased incidence of?

A

anosmia, dust mite sensitization, asthma, AERD, and AFRS

169
Q

CRS with NP have decreased quantity of which mediator

A

PGE2

170
Q

recurrent pneumonia definition in children versus adults

A

children > or equal to 2 episodes in 1 year or 3 or greater episodes ever, in adults, >1 episode per decade

171
Q

cryptogenic organizing pneumonia can be associated with what 3 disease processes

A

connective tissue disease, drugs, or malignancy

172
Q

what is physical exam findings helps to distinguish bronchiolitis from viral induced wheezing

A

rales

173
Q

most causes of croup are due to what virus?

A

parainfluenza

174
Q

which virus is associated with more severe respiratory disease and in children with respiratory compromise

A

influenza A

175
Q

in cases of respiratory distress a tracheal tube that is 0.5 to 1mm smaller should be used due to?

A

laryngeal edema

176
Q

the presentation of croup differs in children and adults how?

A

children: barking cough

older children and adults: hoarseness

177
Q

a PA CXR reveals what findings for croup?

A

“steeple sign” or subglottic narrowing

178
Q

how does epiglottis present

A

no cough, neck extension protrusion, drooling, toxic appearance
“thumb sign” on lateral neck film

179
Q

croup is diagnosed how?

A

clinical - barking cough, stridor

180
Q

treatment of croup

A

nebulized epinephrine for rapid clinical improvement, single dose of IM dexamethasone for mild croup

181
Q

what cells may be pathogenic in RA and other autoimmune disorders

A

Th17 cells

182
Q

what cytokines do Th17 cells produce? and what is their function?

A

IL-17A, IL-17F, IL-22

recruit neutrophils and promote local innate immune defenses

183
Q

what cytokines induce Th17 cells

A

IL-6 and TGF-B

184
Q

survival of Th17 cells is enhanced by what cytokine

A

IL-23

185
Q

what is RF?

A

antibody that binds Fc, usually IgM isotype

186
Q

which autoAb is specific for RF and presence portends more aggressive disease

A

anti-CCP

187
Q

JIA is divided into four subtypes, based on clinical and demographic factors, what are the subtypes?

A

pauciarticular, polyarticular, juvenile spondyloarthropathy, systemic onset (Still’s disease)

188
Q

what is the most common type of JIA

A

pauciarticular

189
Q

what HLA is associated with juvenile spondyloarthropathy

A

HLA-B27

190
Q

what complement deficiencies are associated with SLE?

A

early complement: C1, C2, and C4 deficiency

191
Q

what autoAb in SLE correlates with active disease and lupus nephritis

A

anti-dsDNA

192
Q

what autoAb in SLE correlates with ILD?

A

anti-Smith

193
Q

what autoAb is seen in neonatal lupus syndrome

A

Anti-Ro/La (congenital heart block, thrombocytopenia, annular rash)

194
Q

what autoAb is seen in drug induced lupus

A

anti-histone

195
Q

what autoAb is seen in recurrent blood clots and miscarriages

A

antiphospholipid

196
Q

leading cause of mortality in SLE? presentation on lab and immunofluorescene?

A

lupus nephritis

UA - proteinuria, hematuria, casts, IF shows “full house” with IgG, IgA, IgM, C3, and C1q

197
Q

treatment of lupus nephritis or CNS disease requires?

A

high dose corticosteroids, IV cyclophosphamide, cellcefpt, azathioprine, MTX, type I IFN

198
Q

prognosis of SLE?

A

95% survival 5 yrs post diagnosis, 78% survival 20 years after diagnosis

199
Q

presentation of neonatal lupus

A

heart block, photosensitive erythematous rash, elevated transaminases with hepatomegaly, cytopenias, hydrocephalus +/- macrocephaly

200
Q

treatment of neonatal lupus cardiac manifetations

A

pacing for 3rd heart block, 1st and 2nd degree might respond to glucocorticoids

201
Q

nearly all patients with drug induced lupus have what Ab?

A

ANA, and anti-histone (sensitive NOT specific)

202
Q

drugs known to cause drug induced lupus

A

procainamide, quinidine, diltiazem, beta blockers, hydrazine, isoniazid, anti-TNF, ACE-i, penicillamine, minocycline, anticonvulsants, amiodarone

203
Q

drug induced subacute cutaneous lupus is distinct from drug induced lupus how?

A

drug induced subacute cutaneous lupus has a photo-distributed rash and anti-Ro/SSA positive

204
Q

sjogrens syndrome has increased risk of what?

A

lymphoma

205
Q

autoAb in Sjogren’s

A

anti-Ro/SSA, anti-La/SSB

206
Q

polymyositis/dermatomyositis is distinguished from myasthenia gravis by?

A

proximal muscle weakness, no distal muscle involvement or ocular involvement, sensation and reflexes are presernved

207
Q

what autoAb in dermatomyositis

A

Anti-Jo-1 and Anti-M2 (associated with rash, good outcome)

208
Q

polymyositis and inclusion body myositis is mediated by what cell type?

A

CD8+ T cells

209
Q

dermatomyositis is mediated by?

A

Ab-mediated complement attack

210
Q

CREST syndrome?

A

Calcinosis, Raynaud’s, esophageal dysmotility, sclerodactylyl, telangiectasias

211
Q

ANA pattern in Scleroderma?

A

centromere or nucleolar

212
Q

what autoAb is more common in diffuse systemic scleroderma? limited?

A

diffuse: Anti-Scl 70
limited: anti-centromere

213
Q

treatment of scleroderma renal crises?

A

needs ACE-inhibitor

214
Q

Hodgkin’s lymphoma pathology is characterized by the presence of?

A

Reed Sternberg cell

215
Q

Burkitt’s lymphoma is associated with what infection and what gene?

A

EBV

c-myc gene translocation, at 8q24

216
Q

MALTomas are associated with what infection?

A

H.Pylori

217
Q

Splenic marginal zone B-cell lymphoma is associated with what infection?

A

Hep C

218
Q

Sezary cells (mononuclear cells with a cerebriform nucleus) is commonly seen in what malignancy?

A

T cell lymphoma

219
Q

Mycosis fungoides clinically presents with?

A

rash like plaques or patches, or generalized erythroderma

220
Q

What is Sezary syndrome?

A

erythrodermic cutaneous T cell lymphoma with a leukemic involvement of malignant peripheral T-cell clones identical to those found in the skin lesions

221
Q

Besides T cell lymphoma, Sezary cells can be seen in other malignancies and in the blood of healthy people, T or F?

A

True

222
Q

what is the purpose of serum immunofixation in addition to doing electrophoresis for myelomas?

A

to ascertain the presence of an M protein and to determine its type

223
Q

How is MGUS diagnosed?

A

<3g/dL of monoclonal paraprotein spike on SPEP, <10% of bone marrow involvement, no myeloma related organ or tissue impairment

224
Q

diagnosis of multiple myeloma?

A

> 3g/dL monoclonal paraprotein spike on SPEP, >10% of clonal plasma cells on bone marrow biopsy, and evidence of myeloma-related organ or tissue impairment

225
Q

4 symptoms of myeloma?

A

hypercalcemia, renal failure, anemia, bone lesions

226
Q

diagnosis of Waldenstrom’s macroglobulinemia

A

SPEP showing M component with Beta to gamma mobility, the light chain of the monoclonal protein is usually the kappa light chain, bone marrow shows malignant cells

227
Q

solitary plasmacytoma presentation?

A

pain at the site of skeletal lesions due to destruction of infiltrating plasma cells

228
Q

What is POEMS syndrome?

A

A monoclonal plasma cell disorder with: Polyneuropathy, Organomegaly, Endocrinopathy (excluding DM or hypothyroidism), Monoclonal Protein, Skin Abnormalities

229
Q

What is Castleman’s disease

A

giant cell lymph node hyperplasia, angiofollicular lymph node hyperplasia

230
Q

what virus is implicated in the pathogenesis of Castleman’s disease

A

HHV-8

231
Q

diagnosis of Cattleman’s disease?

A

monoclonal paraprotein spike on SPEP, staining of biopsy always shows lambda chain

232
Q

what is heavy chain disease?

A

rare B-cell proliferative disorder where heavy chain cannot form disulfide bonds with the light chain, there are 3 types: alpha (most common), gamma and mu.

233
Q

What are cryoglobulins?

A

single or mixed immunoglobulins that undergo reversible precipitation at low temperatures

234
Q

which types of cryoglobulinemia contain RF that form complexes with the Fc portion of the polyclonal IgG?

A

type II and III

represent 80% of all cryoglobulins

235
Q

The RF in Type II and III cryoglobulinemia differ how?

A

monoclonal RF in Type II

polyclonal RF in Type III

236
Q

Type I cryoglobulinemia is associated with what cellular abnormality?

A

plasma cell dyscrasia and multiple myeloma

237
Q

Type II and III cryoglobulinemia are associated with what infection?

A

Hep C

238
Q

How long does it take Type I cryoglobulins to precipitate? type III?

A

I: 24 hrs
III: 7 days

239
Q

acute hemolytic transfusion reactions are due to? presentation?

A

ABO-incompatible blood - IgM Ab:RBC Ag - fever, flank pain, red-brown urine

240
Q

delayed hemolytic transfusion reactions are due to? presentation?

A

minor blood group Ag, Rh, Kell, Kidd, or Duffy blood groups - 5-10 days post transfusion with fever, jaundice

241
Q

non-hemolytic febrile reactions are commonly seen after transfusion of what product?

A

platelets - due to cytokines TNFa and IL-1B - temp increase of more than 1 deg C.

242
Q

how can one prevent non-hemolytic febrile reaction?

A

leukoreduction

243
Q

urticarial reactions due to transfusions are most common in what type of transfusion?

A

FFP and platelet transfusion due to IgE against plasma proteins (prevent by washing blood products)

244
Q

anaphylactic transfusion reactions often occur in which patients?

A

IgA deficient patients (anti-IgA Ab) - use twice washed RBCs or products from known IgA deficient donors

245
Q

GVHD as a complication of transfusion can be prevented by?

A

gamma-irradiation of cellular blood products

246
Q

When should TRALI be suspected and what is it caused by?

A

respiratory distress after 1-4 hours post-transfusion; donor leukocyte Ab are directed at recipient neutrophil Ag or HLA, C5a results in pulmonary leukosequestration of neutrophils

247
Q

warm reactive AIHA is due to?

A

polyclonal IgG against RBCs

248
Q

cold reactive AIHA is due to?

A

IgM binding to I antigen at T<37C

249
Q

PNH is due to loss of what proteins on the surface of RBCs?

A

CD59 and CD55 (DAF)

250
Q

PNH presents with?

A

hepatic vein thrombosis

251
Q

how to prevent hemolytic disease of the newborn in RhD negative woman?

A

anti-D immunoglobulin at 28 weeks gestation and within 72 hours after delivery to prevent sensitization

252
Q

what is Evans syndrome

A

ITP, AIHA without underlying etiology

253
Q

Evans syndrome can be associated with what immune deficiencies?

A

CVID and ALPS

254
Q

heparin induced thrombocytopenia is due to?

A

IgG Fab binds to complex between heparin and platelet factor 4, the IgG Fc binds to platelet FcIIa

255
Q

TTP is due to autoAb against?

A

von Willbrand factor cleaving protease (ADAMTS13)

256
Q

ALPS required criteria for diagnosis?

A

chronic >6 months nonmalignant, non infectious LAD or splenomegaly, elevated DNT cells

257
Q

mutations associated with ALPS

A

Fas, FasL, Casp10

258
Q

Graves is associated with what genetic alleles?

A

HLA-DR3 (whites), CTLA-4 alleles

259
Q

What are Hurthle cells and what disease are they associated with?

A

epithelial cells enlarged with distinctive eosinophilic cytoplasm due to increased mitochrondria; Hashimoto’s thyroiditis

260
Q

APS-2 is also known as Schmidt’s syndrome and endocrinopathy differs from APS-1 how?

A

APS 2: Adrenal>DM1>gonadal.

APS1 does not usually involve DM1 or the pituitary gland.

261
Q

APS 1 is also known as APECED, what is the gene defect and presentation?

A

AIRE gene, hypoparathyroid>adrenal>gonadal>gut.

262
Q

IPEX is due to mutation in what transcription factor?

A

FoxP3 mutation - depletion of Tregs

263
Q

antibodies against what enzyme is found in Addison’s disease?

A

21-hydroxylase

264
Q

diagnosis of Addisons?

A

ACTH stimulation, lack of serum cortisol rise

265
Q

aldosterone and renin finding in primary adrenal failure ?

A

decreased aldosterone, increased renin

266
Q

autoAb against what enzyme is found in primary adrenal failure

A

CYP21A2

267
Q

Type IA diabetes has autoAb against? characterized by?

A

GAD65

low insulin and normal weight

268
Q

genetics of Type IA diabetes

A

HLA-DR3,
DQ2 (DQA10501 and DQB10201)
DR4
DQ8 (DQA10301 and DQB10302)

269
Q

most common nephrotic syndrome in children

A

minimal change disease

270
Q

most common nephrotic syndrome in adults

A

membranous nephropathy

271
Q

biopsy findings in membranous nephropathy

A

IF with granular staining of IgG and C3 along GBM. EM shows epithelial foot process effacement and sub epithelial deposits

272
Q

when does post-streptococcal glomerulonephritis (PSGN) occur?

A

10-14 days after infection with group A hemolytic strep pharyngitis or impetigo

273
Q

diagnosis of PSGN is clinical, however what laboratory findings can be seen in PSGN?

A

low C3, with evidence of circulating immune complexes, also can see +anti-ASO or anti-DNAse B, cryoglobulins, RF, high IgG

274
Q

what is the most common glomerulonephritis in the world?

A

IgA nephropathy

275
Q

clinical and laboratory features of IgA nephropathy?

A

asymptomatic microscopic or macroscopic hematuria, elevated circulating polymeric IgA and complexes of IgA in the serum

276
Q

In which demographic and clinical scenario does Henoch Schonlein Purpura occur?

A

male predominance, children <10 years, following URI

277
Q

most common cause of membranoproliferazive glomerulonephritis?

A

essential mixed cryoglobulinemia, associated with Hep C

278
Q

What is Goodpasture’s syndrome

A

acute nephritis and pulmonary vasculitis with antibodies against alpha3 chain of type IV collagen

279
Q

presentation of hemolytic uremic syndrome

A

hemolytic anemia, thrombocytopenia, and renal failure

280
Q

what is the target antigens for pemphigus?

A

desmoglein 1, desmoglein 3

281
Q

what is the target antigen for pemphigoid and linear IgA bulls dermatosis

A

BP 180, BP230

282
Q

what is the target antigen for epidermolysis bulls acquisita

A

type VII collagen

283
Q

how to distinguish episcleritis versus scleritis?

A

one drop of 10% phenylephrine will blanch episcleral redness within 20 minutes, but true scleritis will persist

284
Q

what is pernicious anemia?

A

autoAb to parietal cell and intrinsic factor resulting in B12 malabsorption, macrocytic anemia, and neurologic symptoms

285
Q

genetic association with celiac disease?

A

HLA-DQ2

286
Q

test of choice for celiac disease?

A

IgA TTG high sensitivity and specificity

287
Q

what condition can lead to false negative results in IgA TTG?

A

IgA deficiency

288
Q

what autoAb are found in type I autoimmune hepatitis?

A

anti-smooth muscle, anti-actin, anti-soluble liver or pancreas Ag

289
Q

what autoAb are found in type II autoimmune hepatitis?

A

anti-liver-kidney-microsomes-1 (ALKM-1), anti-liver-cytosol antigen (ALC-1 or LC1)

290
Q

what genetic HLA and autoAb is associated with PBC?

A

HLA-A*0201, anti-mitochondrial Ab

291
Q

what autoAb is seen in PSC?

A

anti-smooth muscle Ab

292
Q

what gene mutation is associated with Crohn’s disease

A

NOD2/CARD15

293
Q

Unlike UC, Crohn’s disease involves all regions of the GI tract and is characterized by what histopathology

A

noncaseating granulomas, skip lesions, transmural involvement

294
Q

how does GB present?

A

paralysis that starts peripherally and is symmetrical

295
Q

what autoAb is seen in MG?

A

anti-AchR

296
Q

MG is associated with what conditions?

A

thymoma/thymic hyperplasia

297
Q

what treatment is approved for MS (multiple sclerosis?)

A

Fingolimod, a sphingosine-1-phosphate receptor modulator

298
Q

what autoAb is seen in Stiff person syndrome as well as DM I?

A

anti-GAD (100-500x greater than in type I DM)

ACAAI Review 3rd Edition (9 decks)

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