Ch. 6 Immunologic Disorders Flashcards Preview

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

Flashcards in Ch. 6 Immunologic Disorders Deck (298):
1

what differentiates HAE type I from type II?

type II has normal or high C1 inh level

2

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

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

3

side effects of androgens for treatment of HAE?

hepatotoxicity, dysplipidemia, masculinization, headaches

4

what C1-inh for long term prophylaxis of HAE

cinryze

5

what plasma-derived C1 inh for acute attacks of HAE

berinert

6

what recombinant C1-inh for acute attacks of HAE?

Ruconest (caution in rabbit allergy)

7

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

ecallantide (Kalbitor)

8

mechanism of action of ecallantide?

kallikrein inhibitor for acute attacks

9

mechanism of action of icatibant?

bradykinin receptor antagonist for acute attacks

10

what lab value distinguishes acquired angioedema from hereditary forms?

low C1q

11

acquired angioedema type 1 vs type 2

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

12

which cytokine receptors have the common gamma chain?

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

13

which SCID is X-linked?

common gamma chain

14

common gamma chain and JAK3 deficiency have what lymphocyte phenotype?

T-B+NK-
difference is that JAK3 is aut. rec., common gamma chain is x-linked

15

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

T-B+NK+

16

CD45 and CD3 deficiency have what lymphocyte phenotype?

T-B+NK+

17

RAG1/2 deficiency lymphocyte phenotype

T-B-NK+
NOT radiosensitive

18

presentation of Omen's syndrome?

erythroderma, eosinophilia, high IgE, FTT, diarrhea

19

clinical findings in ADA deficiency?

skeletal abnormalities, rachitic rosary rib cage, deafness

20

lymphocyte phenotype in ADA deficiency

T-B-NK-

21

clinical findings in reticular dysgenesis?

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

22

clinical findings in PNP deficiency?

lymphoreticular disease and autoimmune disease

23

what gene defects result in radiosensitive SCID

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

24

Causes of CD8 lymphopenia

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

25

Causes of CD4 lymphopenia

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

26

ATM gene function

PI3 kinase responsible for DNA repair breaks, hence why radiosensitive

27

what lab finding is distinguishing/ unique in Ataxia telangiectasia

elevated AFP

28

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

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

29

DiGeroge syndrome features

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

30

X-linked hypomorphic mutation in NEMO clinical findings?

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

31

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

IFNGR1/2 deficiency

32

STAT 3 deficiency inheritance pattern and findings?

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

33

DOCK 8 deficiency inheritance pattern and findings

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

34

IPEX mutation and inheritance pattern

X-linked, FoxP3 mutation
FTT, DM1, cytopenia, rash

35

XLP mutation?

SH2D1A gene encoding SAP

36

XLP features

EBV mononucleosis, HLH

37

Wiskott Aldrich syndrome features

thrombocytopenia + bleeding diathesis, eczema, recurrent infections

38

XLA mutation and features

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

39

aut recessive agammaglobulinemia defects?

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

40

what is Kabuki syndrome

mutation in KMT2D
hypogam, cleft palate, abnormal facies, developmental delay

41

CVID + thymoma is?

Good's syndrome
red cell aplasia, neutropenia, chronic diarrhea

42

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

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

43

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

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

44

WHIM syndrome features

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

45

WHIM mutation

aut dom, CXCR4
warts, hypogam, infection, myeljkathexis

46

severe congenital neutropenia mutations?

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

47

cyclic neutropenia lab findings

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

48

clinical features of LAD1

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

49

clinical features of LAD2

developmental delay, microcephaly, and short stature, Bombay phenotype

50

gene mutation in LAD2?

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

51

gene mutation in LAD1?

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

52

clinical feature of LAD3?

LAD1 + bleeding diathesis

53

gene mutation in LAD3?

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

54

genetic mutation in Chediak Higashi?

CHS1 gene, LYST protein

55

presentation of Chediak Higashi

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

56

appearance of neutrophils in Chediak Higashi?

enlarged lysosomal granules in neutrophils, neutropenia

57

what mutation in CGD is X-linked

p91 phox

58

what mutation in CGD is most common autosomal recessive

p47

59

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

p22 (on membrane like p91 phox)

60

inheritance pattern of CGD can be determined by what test?

DHR fluorescence pattern via flow cytometry

61

IRAK 4 and MyD88 deficiency presentation

pyogenic bacterial infections, septicemia, liver abscess

62

Diseases that cause primary HLH

XLP, familial HLH, Chediak higashi, WAS

63

mutations in classical NK cell deficiency

GATA2 and MCM4

64

classical NK cell deficiency lab findings

low CD16, low NK function

65

functional NK cell deficiency lab findings

normal CD16, low NK function

66

mutations in functional NK cell deficiency

FCRG3A (CD16) mutation
(CD16 is the low affinity IgG receptor)

67

all complement deficiencies inherited in autosomal dominant manner except?

Properdin which is X-linked

68

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

sinopulmonary infections, SLE-like, low CH50

69

clinical features and lab findings in C3 deficiency

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

70

MBL deficiency presentation

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

71

terminal complement deficiencies presentation

Neisseria infections (low CH50 and low AH50)

72

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

Neisseria, low AH50

73

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

HIV-1

74

which type is confined to West Africa

HIV-2

75

HIV proteins that are on the lipid bilayer membrane

gp120 and gp41

76

HIV nucleocapsid protein

p24

77

HIV outer membrane protein surrounding nucleocapsid

p17

78

which HIV protein binds to CD4 and CCR5 or CXCR4?

gp120
this will then induce a conformational change in gp41 resulting in HIV fusion with host cell membrane

79

what is the purpose of reverse transcriptase for HIV?

HIV ssRNA turned into dsDNA

80

integrase in HIV function

integrate dsDNA of HIV into host DNA

81

which coreceptor for HIV is M-tropic (monocytotropic)

CCR5

82

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

CXCR4

83

what allelic mutation confers resistance to CCR5 strain?

double-allelic CCR5delta32 mutation

84

what cells does HIV infect?

CD4+ T cells, macrophages, and dendritic cells

85

how does HIV attach to dendritic cells?

gp120 can bind to DC-SIGN

86

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

cytotoxic T lymphocytes (CTLs)

87

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

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

88

CD4 T cell count that defines AIDS

CD4 <200 cells/mm3

89

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

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

90

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

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

91

when do you use HIV RNA PCR?

quantify viral load

92

HIV p24 antigen testing is used for?

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

93

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

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

94

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

age 12-18 months, 18 months recommended

95

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

ritonavir

96

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?

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

97

medication for prophylaxis for PJP

TMP-SMX (CD4<200)

98

med for prophylaxis for Histo

itraconazole (CD4<150)

99

med for prophylaxis to Coccidioides

fluconazole (CD4<250)

100

med for prophylaxis to Mycobacterium avid complex

azithromycin, clarithromycin (CD4<50)

101

which mediator is implicated in EoE?

eotaxin-3

102

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

TSLP

103

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

strictures, mucosal rings, furrowing, ulceration, white plaques

104

PPI responsive esophageal eosinophilia features?

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

105

diagnosis of EoE?

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

106

diagnostic criteria for HES?

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

107

descending order of organ involvement at HES presentation?

derm > pulm > GI > cardiac > neurologic

108

common cause of death in HES

cardiac disease
(acute necrosis, thrombus formation, then fibrosis)

109

myeloproliferative HES is characterized by what lab features

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

110

lymphocytic HES characterized by what lab features

clonal TCR rearrangement, aberrant IL-5 producing T cells

111

what is Gleich syndrome

episodic angioedema with eosinophilia

112

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

imatinib

113

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

Strongyloides - to avoid disseminated infection

114

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

Darier's sign

115

Which pediatric mastocytosis usually resolves without progression to systemic mastocytosis

diffuse cutaneous mastocytosis

116

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

Urticaria pigmentosa

117

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

diffuse cutaneous mastocytosis

118

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

Mastocytoma of skin

119

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

Telangiectasia muscularis eruptiva perstans

120

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

indolent systemic mastocytosis

121

what mutation leads to increased number of mast cells

KIT D816V - constitutive activation of KIT tyrosine kinase signaling

122

what is the ligand for c-KIT (CD117)

stem cell factor

123

mast cells are identified by what markers

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

124

diagnosis of CM?

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

diagnosis of SM?

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

diagnosis of mast cell activation syndrome

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

127

diagnosis of monoclonal mast cell activation syndrome

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

128

treatment of mastocytosis

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

129

what bacterias use the Ixodes scapularis as a vector?

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

130

How to diagnose Ehrlichiosis?

peripheral smear looking for intraleukocytic morulae

131

what vector does Ehrlichia chaffeensis use?

Amblyomma americium (Lone star tick)

132

How to diagnose Babesiosis?

microscopy and visualization of parasite on thin smear

133

diagnosis of early localized Lyme disease

clinical if erythema migrant present

134

diagnosis of early systemic and late systemic Lyme disease

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

135

Where is Lyme, Anaplasmosis, and Babesiosis endemic?

Northeast and Midwest

136

Where is Ehrlichiosis endemic

SE, south central, and mid-Atlantic region

137

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

Th1

138

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

STAT4

139

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

STAT1

140

What anti-TNF medications can cause reactivation of latent TB

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

141

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

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

142

increased mycobacterial infections are seen in these deficiencies

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

viral hepatitis pathogenesis and cell injury is due to?

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

144

diagnosis of hepatitis A infection?

serology, IgM and IgG

145

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

IgM HBcAb

146

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

HbeAg

147

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

HbsAg and IgG HBcAb

148

Vaccination of Hep B is denoted by what serologic findings

HBsAb ONLY

149

Carrier status of Hep B is denoted by what serologic findings

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

150

false positive nontreponemal tests occur in which 4 situations

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

151

false negative nontreponemal tests occur in what 2 situations

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

152

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

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

153

recurrent AOM is defined by

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

154

in neonates, AOM may be caused by

Group B Strep

155

most common cause of AOM and acute bacterial rhinosinusitis

S. pneumo, H. influenza, M. catarrhalis

156

conjunctivitis with otitis is more likely caused by what organism

H.influenzae, needs augmentin

157

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

high dose amoxicillin

158

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

high dose amoxicillin-clavulanate

159

treatment of AOM if PCN allergic?

if Type I: macrolide or lincosamide
if delayed type: cefdinir, cefuroxime, cefpodoxime, ceftriaxone

160

leading cause of hearing loss in children

otitis media with effusion (OME)

161

complications of OME

hearing loss, TM retraction, or cholesteatoma

162

antibiotic treatment of choice for acute bacterial sinusitis?

amoxicillin-clavulanate

163

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

respiratory fluoroquinolone or doxycycline

164

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

clindamycin + 3rd gen cephalosporin

165

recurrent sinusitis definition

>4 episodes of ARS in 1 year

166

aspirin desensitization should be maintained on what dose?

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

167

what are complications of sinusitis?

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

168

CRS with nasal polyps have an increased incidence of?

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

169

CRS with NP have decreased quantity of which mediator

PGE2

170

recurrent pneumonia definition in children versus adults

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

171

cryptogenic organizing pneumonia can be associated with what 3 disease processes

connective tissue disease, drugs, or malignancy

172

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

rales

173

most causes of croup are due to what virus?

parainfluenza

174

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

influenza A

175

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

laryngeal edema

176

the presentation of croup differs in children and adults how?

children: barking cough
older children and adults: hoarseness

177

a PA CXR reveals what findings for croup?

"steeple sign" or subglottic narrowing

178

how does epiglottis present

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

179

croup is diagnosed how?

clinical - barking cough, stridor

180

treatment of croup

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

181

what cells may be pathogenic in RA and other autoimmune disorders

Th17 cells

182

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

IL-17A, IL-17F, IL-22
recruit neutrophils and promote local innate immune defenses

183

what cytokines induce Th17 cells

IL-6 and TGF-B

184

survival of Th17 cells is enhanced by what cytokine

IL-23

185

what is RF?

antibody that binds Fc, usually IgM isotype

186

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

anti-CCP

187

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

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

188

what is the most common type of JIA

pauciarticular

189

what HLA is associated with juvenile spondyloarthropathy

HLA-B27

190

what complement deficiencies are associated with SLE?

early complement: C1, C2, and C4 deficiency

191

what autoAb in SLE correlates with active disease and lupus nephritis

anti-dsDNA

192

what autoAb in SLE correlates with ILD?

anti-Smith

193

what autoAb is seen in neonatal lupus syndrome

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

194

what autoAb is seen in drug induced lupus

anti-histone

195

what autoAb is seen in recurrent blood clots and miscarriages

antiphospholipid

196

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

lupus nephritis
UA - proteinuria, hematuria, casts, IF shows "full house" with IgG, IgA, IgM, C3, and C1q

197

treatment of lupus nephritis or CNS disease requires?

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

198

prognosis of SLE?

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

199

presentation of neonatal lupus

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

200

treatment of neonatal lupus cardiac manifetations

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

201

nearly all patients with drug induced lupus have what Ab?

ANA, and anti-histone (sensitive NOT specific)

202

drugs known to cause drug induced lupus

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

203

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

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

204

sjogrens syndrome has increased risk of what?

lymphoma

205

autoAb in Sjogren's

anti-Ro/SSA, anti-La/SSB

206

polymyositis/dermatomyositis is distinguished from myasthenia gravis by?

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

207

what autoAb in dermatomyositis

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

208

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

CD8+ T cells

209

dermatomyositis is mediated by?

Ab-mediated complement attack

210

CREST syndrome?

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

211

ANA pattern in Scleroderma?

centromere or nucleolar

212

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

diffuse: Anti-Scl 70
limited: anti-centromere

213

treatment of scleroderma renal crises?

needs ACE-inhibitor

214

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

Reed Sternberg cell

215

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

EBV
c-myc gene translocation, at 8q24

216

MALTomas are associated with what infection?

H.Pylori

217

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

Hep C

218

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

T cell lymphoma

219

Mycosis fungoides clinically presents with?

rash like plaques or patches, or generalized erythroderma

220

What is Sezary syndrome?

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

221

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

True

222

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

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

223

How is MGUS diagnosed?

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

224

diagnosis of multiple myeloma?

>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

4 symptoms of myeloma?

hypercalcemia, renal failure, anemia, bone lesions

226

diagnosis of Waldenstrom's macroglobulinemia

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

solitary plasmacytoma presentation?

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

228

What is POEMS syndrome?

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

229

What is Castleman's disease

giant cell lymph node hyperplasia, angiofollicular lymph node hyperplasia

230

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

HHV-8

231

diagnosis of Cattleman's disease?

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

232

what is heavy chain disease?

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

What are cryoglobulins?

single or mixed immunoglobulins that undergo reversible precipitation at low temperatures

234

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

type II and III
(represent 80% of all cryoglobulins)

235

The RF in Type II and III cryoglobulinemia differ how?

monoclonal RF in Type II
polyclonal RF in Type III

236

Type I cryoglobulinemia is associated with what cellular abnormality?

plasma cell dyscrasia and multiple myeloma

237

Type II and III cryoglobulinemia are associated with what infection?

Hep C

238

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

I: 24 hrs
III: 7 days

239

acute hemolytic transfusion reactions are due to? presentation?

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

240

delayed hemolytic transfusion reactions are due to? presentation?

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

241

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

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

242

how can one prevent non-hemolytic febrile reaction?

leukoreduction

243

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

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

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anaphylactic transfusion reactions often occur in which patients?

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

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GVHD as a complication of transfusion can be prevented by?

gamma-irradiation of cellular blood products

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

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

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warm reactive AIHA is due to?

polyclonal IgG against RBCs

248

cold reactive AIHA is due to?

IgM binding to I antigen at T<37C

249

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

CD59 and CD55 (DAF)

250

PNH presents with?

hepatic vein thrombosis

251

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

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

252

what is Evans syndrome

ITP, AIHA without underlying etiology

253

Evans syndrome can be associated with what immune deficiencies?

CVID and ALPS

254

heparin induced thrombocytopenia is due to?

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

255

TTP is due to autoAb against?

von Willbrand factor cleaving protease (ADAMTS13)

256

ALPS required criteria for diagnosis?

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

257

mutations associated with ALPS

Fas, FasL, Casp10

258

Graves is associated with what genetic alleles?

HLA-DR3 (whites), CTLA-4 alleles

259

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

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

260

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

APS 2: Adrenal>DM1>gonadal.
APS1 does not usually involve DM1 or the pituitary gland.

261

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

AIRE gene, hypoparathyroid>adrenal>gonadal>gut.

262

IPEX is due to mutation in what transcription factor?

FoxP3 mutation - depletion of Tregs

263

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

21-hydroxylase

264

diagnosis of Addisons?

ACTH stimulation, lack of serum cortisol rise

265

aldosterone and renin finding in primary adrenal failure ?

decreased aldosterone, increased renin

266

autoAb against what enzyme is found in primary adrenal failure

CYP21A2

267

Type IA diabetes has autoAb against? characterized by?

GAD65
low insulin and normal weight

268

genetics of Type IA diabetes

HLA-DR3,
DQ2 (DQA1*0501 and DQB1*0201)
DR4
DQ8 (DQA1*0301 and DQB1*0302)

269

most common nephrotic syndrome in children

minimal change disease

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most common nephrotic syndrome in adults

membranous nephropathy

271

biopsy findings in membranous nephropathy

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

272

when does post-streptococcal glomerulonephritis (PSGN) occur?

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

273

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

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

274

what is the most common glomerulonephritis in the world?

IgA nephropathy

275

clinical and laboratory features of IgA nephropathy?

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

276

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

male predominance, children <10 years, following URI

277

most common cause of membranoproliferazive glomerulonephritis?

essential mixed cryoglobulinemia, associated with Hep C

278

What is Goodpasture's syndrome

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

279

presentation of hemolytic uremic syndrome

hemolytic anemia, thrombocytopenia, and renal failure

280

what is the target antigens for pemphigus?

desmoglein 1, desmoglein 3

281

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

BP 180, BP230

282

what is the target antigen for epidermolysis bulls acquisita

type VII collagen

283

how to distinguish episcleritis versus scleritis?

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

284

what is pernicious anemia?

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

285

genetic association with celiac disease?

HLA-DQ2

286

test of choice for celiac disease?

IgA TTG high sensitivity and specificity

287

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

IgA deficiency

288

what autoAb are found in type I autoimmune hepatitis?

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

289

what autoAb are found in type II autoimmune hepatitis?

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

290

what genetic HLA and autoAb is associated with PBC?

HLA-A*0201, anti-mitochondrial Ab

291

what autoAb is seen in PSC?

anti-smooth muscle Ab

292

what gene mutation is associated with Crohn's disease

NOD2/CARD15

293

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

noncaseating granulomas, skip lesions, transmural involvement

294

how does GB present?

paralysis that starts peripherally and is symmetrical

295

what autoAb is seen in MG?

anti-AchR

296

MG is associated with what conditions?

thymoma/thymic hyperplasia

297

what treatment is approved for MS (multiple sclerosis?)

Fingolimod, a sphingosine-1-phosphate receptor modulator

298

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

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