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Tao Le A/I Board Review > Immunologic Disorders > Flashcards

Immunologic Disorders Flashcards

1
Q

What is the major mediator of swelling in HAE?

A

bradykinin

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2
Q

What is the difference between HAE type I vs HAE type II?

A

HAE type I has low or absent C1 inhibitor

HAE type II has normal C1 inhibitor levels but no or low function

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3
Q

What medications can be used to treat acute attacks of HAE?

A

berinert - C1 inhibitor
ecallantide - Kallikrein inhibitor
icatibant - bradykinin receptor antagonist

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4
Q

What medication is approved for HAE prophylaxis?

A

Cinryze - C1 inhibitor

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5
Q

Which complement component is decreased in acquired but not hereditary angioedema?

A

C1q

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6
Q

Which medication for HAE attacks has a black box warning for anaphylaxis?

A

Ecallantide

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7
Q

What is the difference between type I and type II acquired angioedema?

A

Type I: paraneoplastic (B cell lymphoproliferative - MGUS)

Type II: autoimmune (anti-C1q antobody)

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8
Q

What is the most common cause of acute angioedema seen in ERs?

A

ACE inhibitor related

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9
Q

What is the most common form of SCID?

A

X-linked: common gamma chain deficiency

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10
Q

Which IL receptor use the common gamma chain?

A

IL2, 4, 7, 9, 15, 21 receptors

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11
Q

Which forms of SCID are NK-?

A

ADA deficiency, JAK3, IL-1RG, reticular dysgenesis

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12
Q

What is the lymphocyte phenotype for X-linked SCID?

A

T-B+NK-

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13
Q

What is the lymphocyte phenotype for JAK-3 deficient SCID?

A

T-B+NK-

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14
Q

What is the lymphocyte phenotype for IL7R-alpha SCID?

A

T-B+NK+

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15
Q

What is the lymphocyte phenotype for RAG1/2 SCID?

A

T-B-NK+

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16
Q

What is the lymphocyte phenotype for ADA deficient SCID?

A

T-B-NK-

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17
Q

What is the lymphocyte phenotype for reticular dysgenesis form of SCID?

A

T-B-NK-

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18
Q

What is the lymphocyte phenotype for artemis deficient SCID?

A

T-B-NK+

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19
Q

Which radiosensitive form of SCID has absence of Hassal’s corpuscles?

A

Nijmegen breakage syndrome

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20
Q

Which forms of SCID can be missed on newborn screen?

A

bare lymphocyte syndrome, ZAP70, MHC class I deficiency (TAP 1/2 mutation), ADA deficiency

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21
Q

Which immunodeficiency has elevated alpha fetal protein, IgA deficiency, and radiosensitivity?

A

Ataxia-telangiectasia

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22
Q

Defects in which gene causes chronic mucocutaneous candidiasis?

A

AIRE gene

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23
Q

Which immunodeficiency is characterized by absent germinal centers?

A

CD40 or CD40L deficiency

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24
Q

Which immunodeficiency is due to inability to activate NFκB?

A

NEMO - NF-kappa B Essential Modulator”

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25
Q

Which immunodeficiency is characterized by EBV infection?

A

XLP - can’t eliminate EBV -> prolonged antigen presentation + hyperactivation

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26
Q

Which immunodeficiency has thrombocytopenia and decreased platelet size?

A

Wiskott-Aldrich syndrome

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27
Q

Some selective IgA deficiency is associated with what mutation?

A

TACI

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28
Q

X-linked agammaglobulinemia is due to a mutation in what?

A

Bruton’s tyrosine kinase (BTK) - B cells arrest at pre-B cell stage

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29
Q

Which infections are typical of XLA?

A

enteroviral encephalitis

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30
Q

What mutation causes APECED and what is the most common endocrinopathy seen in the disease?

A

AIRE; hypoparathyroidism

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31
Q

What mutation causes IPEX and what cell is affected by the disease?

A

FOXP3 and Tregs

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32
Q

What disease is characterized by CVID and a thymoma?

A

Good’s syndrome

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33
Q

Which enzymes are defective in hyper-IgM syndrome, causing lymphoid hyperplasia and adenopathy?

A

AID and UNG

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34
Q

What are the differences between HIGM1/3 and HIGM2/4?

A

HIGM1/3 are combined immunodeficiencies with severe infections and absent LN due to lack of CD40/CD40L interactions; HIGM2/4 are antibody deficiencies with lymphoid hyperplasia and adenopathy - defect is in B cell class switching

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35
Q

What is the molecular defect in WHIM syndrome?

A

CXCR4 activating defect

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36
Q

CD18 deficiency leads to what immunodeficiency?

A

LAD-1

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37
Q

LAD-2 is due to mutation in what?

A

Lialyl-Lewisx (CD15a)

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38
Q

What is the molecular defect in CGD?

A

PHOX (phagocytic NADPH oxydase system)

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39
Q

How are IRAK4 and MyD88 deficiency diagnosed?

A

decreased PBMC cytokine production when stimulated with TLR agonists

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40
Q

How do you distinguish between complement deficiency and complement consumption?

A

CH50 and AH50

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41
Q

A low CH50 but normal AH50 would be indicative of what?

A

early complement deficiency (classical pathway)

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42
Q

A low AH50 would indicate a defect in which components?

A

Factor B, D and properdin

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43
Q

DAF (decay-accelerating factor) and CD59 deficiency are associateed with which disease?

A

Paroxysmal nocturnal hemoglobinuria

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44
Q

HIV gp120 binds to which cell surface proteins?

A

CXCR4, CCR5, CD4

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45
Q

Coreceptor binding of HIV to a target cell causes a conformational change in which viral protein, allowing for fusion?

A

gp41

46
Q

Which enzyme converts HIV ssRNA to dsDNA?

A

reverse transcriptase

47
Q

Which enzyme inserts HIV DNA into the host DNA?

A

integrase

48
Q

At what point is HIV infection considered AIDS?

A

when CD4 count drops below 200 or pt develops AIDS defining condition

49
Q

What test is used to confirm HIV and what does it detect?

A

Western Blot; detects anti-p24, anti-gp41,

anti-gp160/gp120

50
Q

When would you use HIV DNA by PCR as a detection method?

A

detect during acute viral syndrome before antibody has been produced

51
Q

What gene should be screened for before starting a patient on abacavir?

A

HLA-B*5701

52
Q

What is immune reconstitution inflammatory syndrome?

A

clinical deterioration after starting HAART for HIV attributed to reactivation of immune response causing cytokine storm - rapid rise in CD4 counts

53
Q

What is rheumatoid factor?

A

IgM against Fc portion of IgG

54
Q

What autoantibodies are associated with Sjogren’s syndrome?

A

Ro/SS-A; La/SS-B

55
Q

What autoantibodies are associated with CREST syndrome?

A

anticentromere

56
Q

What autoantibodies are associated with polymyositis and dermatomyositis?

A

Anti-Jo-1, Anti-PL-7

57
Q

What is Felty’s syndrome?

A

triad of RA, neutropenia and splenomegaly

58
Q

What autoantibodies are more specific for RA than rheumatoid factor?

A

anti-CCP or ACPA

59
Q

How does polymyositis differ clinically from myasthenia gravis?

A

in polymyositis symptoms involve proximal muscles; sensation and reflexes are preserved

60
Q

Patient with proximal muscle weakness has biopsy showing basophilic rimmed vacuoles and filamentous inclusions. What is the Dx?

A

inclusion body myositis

61
Q

What is CREST syndrome?

A

calcinosis, Raynaud’s, Esophageal dysmotility, sclerodactyly, telangiectasias

62
Q

What autoantibodies are associated with scleroderma?

A

anticardiolipin

63
Q

Which form of solid organ rejection occurs while the patient is on the operating table?

A

hyperacute

64
Q

Which form of solid organ rejection occurs within 2-5 days?

A

accelerated

65
Q

Which form of solid organ rejection occurs from 7 days to 3 months after transplant?

A

acute

66
Q

Which form of solid organ rejection occurs months to years after transplant?

A

chronic

67
Q

Which transplant tissues do not require HLA matching?

A

cornea, bone, joint tissue and hematopoetic stem cells

68
Q

In stem cell transplant, how are the donor’s cells identified as stem cells?

A

CD34+

69
Q

Which cytokines are important in graft vs. host disease?

A

IL-10, TNFα, IFNγ

70
Q

What cells are involved in acute GVH disease and not chronic?

A

CD45RO+ T cells

71
Q

What autoantibodies are associated with Graves’ disease?

A

Anti-TSH receptor Ab - stimulate thyroid gland

72
Q

What genetic variants are associated with Graves’ disease?

A

HLA-DR3 (whites); CTLA-4

73
Q

What is the function of AIRE and where does it function?

A

in thymic medulary epithelial cells - expression of antigens found elsewhere in the body - guides negative selection

74
Q

What disease is associated with AIRE mutations?

A

autoimmune polyendocrine syndrome-1 (APECED)

75
Q

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is due to a mutation in what?

A

FOXP3 - absent Tregs

76
Q

Mutations in which genes lead to autoimmune lymphoproliferative syndrome (ALPS)?

A

Fas; Fas ligand; Caspase-10

77
Q

What autoantibodies are associated with Addison’s disease?

A

21-hydroxylase - used in adrenal cortex

78
Q

What autoantibodies are associated with Type I DM?

A

anti-glutamic acid dehydrogenase (anti-GAD65) Ab

79
Q

Membranous nephropathy has granular staining of what on the GBM?

A

IgG and C3

80
Q

How long after infection does post-streptococcal glomerulonephritis occur?

A

10-14 days

81
Q

7 y/o boy presents with abdominal pain, hematuria, and purpuric rash. Bx shows IgA immune complexes. What is the Dx?

A

Henoch-Schonlein Purpura

82
Q

What autoantibodies are associated with pemphigus?

A

Desmoglein-1&3 Ab

83
Q

What autoantibodies are associated with epidermolysis bullosa acquisita?

A

Type VII collagen Ab

84
Q

What autoantibodies are associated with pemphigoid?

A

BP antigen Ab

85
Q

Which has flaccid bullae and positive Nikolsky’s sign - pemphigus or pemphigoid?

A

pemphigus

86
Q

Which has tense bullae and pruritis - pemphigus or pemphigoid?

A

pemphigoid

87
Q

How can you distinguish episcleritis from scleritis?

A

drop of epi clears episcleritis but not scleritis

88
Q

Which HLA class is associated with Celiac disease?

A

HLA DQ2

89
Q

What are the most common foods to cause reactions in EoE?

A

milk, egg, wheat, soy

90
Q

Which gene mutation is strongly associated with Crohn’s disease?

A

NOD

91
Q

Myasthenia Gravis is associated with what autoantibody and what CT finding?

A

acetylcholine receptor; thymoma

92
Q

What mutation in HES predicts good response to imatinib?

A

FIP1L1 fusion gene

93
Q

What are the three subtypes of myeloproliferative HES?

A

myeloproliferative with FIP1L1; myeloproliferative with negative FIP1L1; chronic eosinophilic leukemia

94
Q

Which type of HES has no response to imatinib?

A

lymphocytic

95
Q

What infection is associated with Burkitt’s lymphoma?

A

EBV

96
Q

MALT lymphoma is associated with what infection?

A

h. pylori

97
Q

What serum markers are often elevated in granulomatous disease?

A

ACE, 1,25-vit. D

98
Q

What is the difference in cellularity of BAL between sarcoidosis and hypersensitivity pneumonitis?

A

CD4/CD8 count is elevated in sarcoid, decreased in HP

99
Q

What autoantibodies are associated with Wegener’s granulomatosis?

A

c-ANCA, anti-PR3

100
Q

What is the most common form of amyloidosis and what is the pathophysiology?

A

primary amyoidosis; deposition of Ig light chains

101
Q

What is the signature histiological finding in amyloidosis?

A

congo red and apple green birefringence

102
Q

16 y/o girl with hearing loss, recurrent fevers, urticaria and joint pain every 3 weeks triggered by cold temps. Labs show proteinuria and amyloid deposits on Bx. What is the Dx?

A

Muckle-Wells syndrome

103
Q

What is required for mas cell survival and is the ligand for c-KIT?

A

stem cell factor

104
Q

What gene mutation can be found in systemic mastocytosis?

A

c-KIT

105
Q

What disease is due to loss of phosphatidyl-insoitol-glycerol linkage proteins and presents with hepatic vein thrombosis?

A

Paroxysmal nocturnal hemoclobinuria

106
Q

How does heparin induced thrombocytopenia occur and how does it present?

A

IgG to platelet FcIIa triggers platelet activation and consumption; presents with thrombosis and thrombocytopenia 5-14 days after starting unfractionated heparin.

107
Q

Which autoantibodies are mainly associated with SLE?

A

Anti-dsDNA; Anti-Smith; anti-U1-RNP

108
Q

Which neonatal receptor allows the transfer of maternal IgG across the placenta?

A

FcRn receptor

109
Q

What is characterized by recurrent pregnancy loss, prolonged bleeding tie, hypercoagulability and false positive VDRL test?

A

Antiphospholipid Syndrome

110
Q

What test can be performed for TB if skin testing is indeterminate?

A

interferon gamma release assay (IGRA)

111
Q

Which cytokine is essential in granuloma formation?

A

TNFα

112
Q

Detection of what indicates an acute Hep B infection?

A

IgM to core antigen

Tao Le A/I Board Review (11 decks)

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