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Lecom pathology year 2 > chapter 6- immune diseases (and immune 12) > Flashcards

chapter 6- immune diseases (and immune 12) Flashcards

1
Q

What do defects of RAG-1 and RAG-2 lead to failure of

A

Generation of mature lymphocytes

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2
Q

What are the surface markers for NK cells

A

CD16 and CD56

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3
Q

What interleukin stimulates proliferation of NK cells

A

IL-15

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4
Q

What interleukin activates killing and secretion of IFN_gamma

A

IL-12

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5
Q

What cells are considered the first defined innate lymphoid cells

A

NK cells

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6
Q

What chromosome are MHC on/HLA

A

Chromosome 6

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7
Q

What cells express MHC 1

A

All nucleated cells and platelets

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8
Q

What cells express B7

A

APCs

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9
Q

What cells express CD28

A

Naive T cells

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10
Q

What cytokine induces Th1 subset

A

IFN-gamma, IL-12

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11
Q

What cytokine induces Th2 subset

A

IL-4

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12
Q

What cytokines induce TH17 subset

A

TGF-beta, IL-6, IL-1, IL-23

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13
Q

What do Th1 have host defense against

A

Intracellular microbes

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14
Q

What host defense does TH17 have

A

Against extracellular bacteria, fungi

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15
Q

What are the prototypic disorders of type 1 hypersensitivity

A

Anaphylaxis; allergies; bronchial asthma

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16
Q

What are the prototypical disorders of type 2 hypersensitivity

A

Autoimmune hemolytic anemia; goodpasture syndrome

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17
Q

What are the prototypical disorders of type 3 hypersensitivity

A

SLE; some forms of glomerulonephritis; serum sickness; Arthur’s reaction

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18
Q

What are the prototypical disorders of type 4 hypersensitivity

A

Contact dermatitis; multiple sclerosis; type 1 diabetes; tuberculosis

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19
Q

Role if IL-4 in type 1 hypersensitivity

A

Act on B cells to stimulate class switching to IgE and promotes development of additional Th2 cells

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20
Q

What is the role of IL-5 in type 1 hypersensitivity

A

Development and activation of eosinophils

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21
Q

What is the role of IL-13 in type 1 hypersensitivity

A

Enhances IgE production and acts on epithelial cells to stimulate mucus secretion

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22
Q

What type of hypersensitivity is myasthenia gravis

A

Type 2

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23
Q

What is the term for immature self-reactive T and B cells clones that recognize self antigens during their maturation in the thymus or bone marrow are killed or rendered harmless

A

Central tolerance

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24
Q

What is the role of AIRE gene

A

Stimulates expression of some peripheral tissue restricted self antigens in the thymus and is critical for deletion of immature T cells specific for these antigens

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25
Q

What are the immune privileged sites

A

Testis, eyes, brain

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26
Q

What is HLA-B27 associated wth

A

Ankylosing spondylitis

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27
Q

What is HLA-BW47 associated with

A

21-hydroxylase deficiency

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28
Q

What is HLA-A associated with

A

Hereditary hemochromatosis

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29
Q

What is NOD2 polymorphisms associated with

A

Crohn disease

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30
Q

What diseases does IL23R have association with

A

IBD, PS, AS

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31
Q

What is teh normal role of IL23R

A

Receptor for TH17-inducing cytokine IL-23; may alter differentiation of CD4+ T cells into pathogenic TH17 effects cells

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32
Q

What is the role of CTLA4

A

Inhibits T cell responses by terminating activation and promoting activity of Treg cells; may interfere with self-tolerance

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33
Q

What diseases is PTPN22 associated with

A

Rheumatoid arthritis, type 1 DM

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34
Q

What is the hallmark of SLE

A

Production of autoantibodies

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35
Q

What antibodies are diagnostic for SLE

A

Antibodies to dsDNA and smith antigen

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36
Q

Describe class 1 renal SLE

A

Minimal mesangial; immune complexes in mesangium

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37
Q

Describe class 2 renal SLE

A

Mesangial proliferation with accumulation of mesangial matrix

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38
Q

Describe class 3 SLE

A

Focal; affected glomeruli may exhibit swelling and proliferation of endothelial and mesangial cells associated with leukocyte accumulation, capillary necrosis, hyaline thrombi

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39
Q

Describe class 4 renal SLE

A

Diffuse

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40
Q

Describe class 5 renal SLE

A

Membranous

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41
Q

Describe class 6 SLE

A

Advanced sclerosing

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42
Q

Describe the chronic discoid form of lupus

A

Skin manifestations without systemic usually; positive ANA but usually no anti-DS-DNA antibodies

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43
Q

Describe subacute cutaneous lupus

A

Skin lesions widespread, superficial and not scarring; mild systemic symptoms; anti-SS-A antibodies; HLA-DR3

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44
Q

What drugs can induce drug induced lupus

A

Hydralazine, procainamide

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45
Q

Describe drug induced lupus

A

Positive ANA; no renal or CNS involvement; anti-histone antibodies; HLA-DR4

46
Q

What antibodies are seen with sjogren syndrome

A

Anti-SS-A (ro) and anti-SS-B (la) antibodies

47
Q

What is typically biopsied for diagnosis of sjogren syndrome

A

Lip (to examine minor salivary gland)

48
Q

What is the term for chronic inflammation, widespread damage to small blood vessels, progressive interstitial and perivascular fibrosis in the skin and multiple organs

A

Systemic sclerosis (scleroderma)

49
Q

Describe diffuse scleroderma

A

Widespread skin involvement at onset, with rapid progressive and early visceral involvement

50
Q

Describe limited scleroderma

A

Skin involvement is confined to fingers, forearms, and face

51
Q

What is CREST syndrome

A

Calcinosis, raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia

52
Q

What antibodies do you see with scleroderma

A

Anti-Scl 70 antibodies, anticentromere antibody

53
Q

What are the distinctive features of scleroderma

A

Striking cutaneous changes, notably skin thickening

54
Q

Describe the direct pathway of cellular rejection

A

T cells recognize allogeneic MHC molecules on the surface of APCs in the graft, major pathway in acute cellular rejection

55
Q

Describe indirect pathway of cellular rejection

A

T cells recognize MHC antigens after they are presented by the recipients APCs, more important in chronic rejection

56
Q

Describe type 1 LAD

A

Defect in biosynthesis of beta2 chain shared by LFA1 and Mac-1 integrins

57
Q

Describe type 2 LAD

A

Caused by absence of sialyl-Lewis X, the fucose-containing ligand for E- and P-selections

58
Q

What is the major clinical problem in both types of LAD

A

Recurrent bacterial infections due to inadequate granulocytes function

59
Q

What disorder is AR that is characterized by defective fusion of phagosomes and lysosomes, resulting in defective phagocytes function and susceptibility to infections

A

Cherish-hiashi syndrome

60
Q

What does defects in TLR3 result in

A

Recurrent herpes simplex encephalitis

61
Q

What is defects in MyD88 associated with

A

Issues with destruction of bacterial pneumonia

62
Q

What does deficiency of C1 inhibitor lead to

A

Hereditary angioedema

63
Q

What is the defect in chronic granulomatous disease

A

Decreased oxidative burst

64
Q

How do infants present with SCID

A

Thrush, diarrhea, FTT, morbilliform rash

65
Q

What is mutations in X-linked agammaglobulinemia

66
Q

What chromosome is Btk located on

A

Chromosome 21

67
Q

What recurrent bacterial infections are most common with X-linked agammaglobulinemia

A

Respiratory tract: H. Influenzae, strep pneumo, staph aureus

68
Q

What is mutated in Hyper-IgM syndrome

A

Gene encoding CD40 or activated induced delaminates

69
Q

What is the abnormality in common variable immunodeficiency

A

BAFF or ICOS

70
Q

What type of infections are recurrent in common variable immunodeficiency

A

Sinopulmonary pyogenic infection

71
Q

What are people with X-linked lymphoproliferative syndrome unable to eliminate

72
Q

What gene is mutated in X-linked lymphoproliferative syndrome

73
Q

What are defects in Th1 associated with

A

Atypical mycobacterial infections

74
Q

What is defective in job syndrome

75
Q

How is Wiskott-Aldrich syndrome hereditary

A

X_linked recessive

76
Q

What is teh clinical presentation of wiskott Aldrich syndrome

A

Thrombocytopenia, eczema, marked vulnerability to recurrent infection

77
Q

What is mutation. In wiskott Aldrich syndrome

A

WASP gene at Xp11.23

78
Q

Describe Ig levels in Wiskott-Aldrich syndrome

A

IgM levels in serum are low but IgG is normal; levels of IGA and IgE are often elevated

79
Q

What lymphomas are individuals with wiskott Aldrich more prone to

A

B cell lymphomas

80
Q

How is ataxia telangectias hereditary

81
Q

What Ig are mainly defectively produced with ataxia telangectasia

A

IgA and IgG2

82
Q

What chromosome is the gene responsible for ataxia telangectasia on

83
Q

What should you think of with apple-green birefringence

A

Amyloidosis

84
Q

describe Ig levels with common variable immune deficiency

A

low IgG, IgA; normal/low IgM

85
Q

what type of bacteria specifically are individuals with wiskott-aldrich more prone to

A

encapsulated

86
Q

what is the most common form of skin

A

common gamma chain deficiency

87
Q

what type of infections are seen most with common gamma chain deficiency SCID

A

opportunistic fungal infections, chronic diarrhea, skin/mouth/throat lesions

88
Q

what is the clinical phenotype of ZAP70 deficiency

A

decreased numbers of CD8+ T cells, normal or decreased number of CD4+ T cells, and severe recurrent infections

89
Q

what is the clinical phenotype of HIGM1

A

pneumocystis carinii pneumonia, pyogenic infections, nora or increased level of IgM, and low level or absent IgG/IgA/IgE

90
Q

what is the biochemical cause of CGD

A

deficiency of NADPH oxidase in phagocytes

91
Q

what infections are people with CGD most susceptible to

A

recurrent infection with catalase-positive organisms (staphylococci)

92
Q

what activity is absent in chediak-higashi syndrome

A

NK activity

93
Q

what immune disease has partial albinism as diagnostic criteria

A

chediak-higashi syndrome

94
Q

what immune deficiency should you associated with delayed detachment of umbilical cord

A

leukocyte adhesion deficiency

95
Q

what neutrophil adhesion molecules are involved in LAD

A

CD11 and CD18

96
Q

what is factor H deficiency associated with

A

atypical hemolytic uremic syndrome and glomerulonephritis

97
Q

what is C1 esterase inhibitor deficiency associated with causing

A

hereditary angioedema

98
Q

defects in decay-accelerating factor are seen in patients with what diagnosis

A

paroxysmal nocturnal hemoglobinuria

99
Q

what protein level is an indictor of HIV progression

100
Q

what STD do people with SLE sometimes test positive for

101
Q

what is the role of LTR in HIV infection

A

integration of viral DNA into host genome; binding site for transcription factors

102
Q

what is the role of Gag in HIV infection

A

nuclear import of viral DNA

103
Q

what is the role of pol in HIV infection

A

encodes variety of viral enzymes

104
Q

what is the role of Vif in HIV infection

A

overcomes inhibitory effects of host cell factors

105
Q

what is the role of Vpr in HIV infection

A

promotes infection of macrophages by regulating nuclear import of HIV reintegration compelx

106
Q

what is the role of tat in HIV infection

A

promotes cells cycly arrest and enhances integrated viral DNA transcription

107
Q

what is the role of rev in HIV infection

A

inhibits viral RNA splicing and promotes export of incompletely spliced viral RNA

108
Q

what is the role of Vpu in HIV infection

A

promotes CD4 degradation and influences vision release

109
Q

what is the role of env in HIV infection

A

cleaved into gp120, which mediates CD4 and chemokine receptor bindind and gp 41 which mediates fusion

110
Q

what is the role of nef in HIV infection

A

promotes downreg of surface CD4 and class 1 MHC expression; blocks apoptosis; enhances vision infectivity

Lecom pathology year 2 (18 decks)

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