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Immunology Block 4 > Immunodeficiencies I: Primary Deficiencies of Innate Immunity > Flashcards

Immunodeficiencies I: Primary Deficiencies of Innate Immunity Flashcards

1
Q

it’s very unusual to see a t cell def. that doesn’t also present as

A

combined immunodeficiency

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2
Q

primary immune deficiency, most molecular defects are

A

known

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3
Q

if someone has history of repeated infections, suggest diagnosis of

A

immunodeficiency

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4
Q

primary immunodeficiency are generally caused by

A

inherited gene defect

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5
Q

immunodeficiency disease only treatable by

A

Hematopoietic stem cell transplantation or gene therapy can be useful to correct genetic defects.

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6
Q

primary immunodeficiency are very

A

rare

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7
Q

secondary immunodefieicncies are very

A

common - major cause of infection and death

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8
Q

pure Immunodeficiencies

A

like x linked amanoglobinemia

clinical presentation is pretty similar

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9
Q

complex Immunodeficiencies

A

clinical presentation varies a lot

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10
Q

signifiance of Immunodeficiencies

A

increased risk of opportunistic infections and tumors

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11
Q

what are more common, primary or secondary Immunodeficiencies

A

secondary

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12
Q

primray or secondary can result in lesionsoutside of immune system

A

secondary Immunodeficiencies

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13
Q

X linked SCID is example of

A

inherited primary Immunodeficiencies

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14
Q

in SCID pt does not have

A

T cells

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15
Q

polymorphisms in primary Immunodeficiencies are much more common than

A

the mutations that give rise to the primary Immunodeficiencies

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16
Q

three causes of primary Immunodeficiencies

A

mutations
polymorphisms
polygenic disorders

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17
Q

selective IgA def. is most common of

A

primary Immunodeficiencies

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18
Q

notecard pg 8

A

8 - only do the ones he has gone through

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19
Q

asplenia is very

A

rare

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20
Q

APCEd defieicney in

A

AIRE

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21
Q

IPEX deficiency in

A

FOXP3

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22
Q

name some things that would cause you to suspect Immunodeficiencies

A 
family history of it
need IV antibodiotics or hospitalization to clear infection
2 or more infections of pneumonia per year
2 or more sepsis or meningitis
recurrent or resistant candidiasis
recurrent tissue or organ absecesses
infection w/ opportunistic organism
live vaccine complications
non-healing wounds, chronic diarrhea
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23
Q

review pg 13

A

13

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24
Q

if there are recurrent infectiosn indictation there may be problem with

A

complement, phagocytes, or immunoglobulins

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25
Q

recurrent viral/fungal/opportunisitic infections may be problem with

A

T cell (cell mediated)

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26
Q

bacterial infections are

A

extracellular

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27
Q

intracellular pathogens are

A

intracellular

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28
Q

defects in phagocytes permit

A

widespread bacterial infections

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29
Q

defects in complement permit

A

widespread bacterial infections

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30
Q

LAD stands for

A

leukocyte adhesion deficiency

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31
Q

LAD1 prevents

A

adhesion ofphagocytes to actiated endothelium

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32
Q

LAD2

A

leukoctyes cannot adhere to endothelium

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33
Q

LAD3

A

defect in CD15, no rolling

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34
Q

all LAD result in neutrophils :

A

they can’t get to site of infection

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35
Q

CGD stands for

A

chronic granulomatous disease

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36
Q

CGD results in mutation in

A

NADPH oxidase complex

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37
Q

if you can’t assemple NADPH you lack

A

oxidative pathway

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38
Q

what is morst important killing of phagocytes

A

oxidative pathway

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39
Q

clinical effect of CGD

A

chronic bacterial and fungal infections

granulomas

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40
Q

CHS stands for

A

chediak higashi syndrome

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41
Q

defect in CHS

A

lysosomal trafficking regulator protein

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42
Q

functional effect in CHS

A

defective fusion of endosomes and lysosomes

defective phagocytosis

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43
Q

clinical effect of CHS

A

recurrenta nd presistant bacterial infections
granulomas
damage organs

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44
Q

how would you diagnose Immunodeficiencies

A

complete blood count/differential

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45
Q

if you find abnormal neutrophil counts what will you then look at

A

CD11/CD18 assay

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46
Q

LAD results in profound

A

leukocytosis

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47
Q

leukocytosis

A

electaed leukocyte numbers in peripheral blood

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48
Q

LAD1 defect?

A

defect in beta chin ofintegrin

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49
Q

beta chain is present where

A

LFA-1

CR3 CR4

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50
Q

CR3 and 4 are involve din

A

complement -b ind to opsinized bacteria

51
Q

review pg 20, draw out the effect LAD on leukocyte adhesion cascade

A

pg 20

52
Q

will pts with LAD gorm pus

A

no

53
Q

when does LAD present

A

1-2 months of age

54
Q

LAD is characterized by extreme

A

leukocytosis

55
Q

why is LAD characterized by extreme leukocytosis

A

they can’t get through endothelium to site of infection

56
Q

what happens very early on to signal LAD

A

Umbilical Cord - Delayed separation at birth, postnatal redness and swelling (omphalitis)

57
Q

describe Rebuck skin window

A

mild abrasion on skin and cover slip applied, abrasion of skin induces mild inflamatory response so neutrophils are attracted. normal individuals: neutrophils will attach to cover slip. individuals with LAD, no neutrophil attachment

58
Q

flow cytometry for LAD

A

to analyze fi pt has it

59
Q

treatment for LAD

A

BMT

60
Q

BMT stands for

A

bone marrow transplantation

61
Q

CD15 is

A

sialyl lewis

62
Q

draw out flow cytometry of normal individual compared to CD18 and CD15

A

pg 23

63
Q

draw out flow cytometry of pt with LAD II

A

pg 23

64
Q

draw out flow cytometry of pt with LAD I

A

pg 23

65
Q

what is defective step in LAD II

A

rolling

66
Q

what step is defective in LAD I

A

tight binding step

67
Q

NBT test looks at

A

ability of neutrophils to kill what they have inside them

68
Q

CGD are compromised in

A

oxidative killing pathways

69
Q

most common mutation in CGD

A

gp91

70
Q

gp91 is encoded on

A

x chromosome

71
Q

catalase breaks down

A

hydrogen peroxide

72
Q

in absence of hydrogen peroxide, if pacteria are catalase negative there will still be

A

some to make superoxide anion

73
Q

symptoms of CGD

A

recurrent infections with catalase-positive bacteria, fungi (normal flora)

74
Q

susceptible infections of CGD

A

extracellular pathogens and fungi (neutrophils)

75
Q

to test CGD/functionality of NADPH oxidase

A

NBT test

flow cytometry

76
Q

NBT test assess

A

assess function of NADPH oxidase

77
Q

negative NBT indictivei of

A

defective NADPH oxidase

78
Q

if neutrophils are functional they reudce

A

NBT and blue crystals of reduced NBT

79
Q

NBT stands for

A

Nitro Blue Tetrazolium

80
Q

DHR stands for

A

Dihydrorhodamine

81
Q

DHR test, describe

A

flow cytometry - resting neutrophils will not reduce the DHR

82
Q

if you expose the neutrophils from healthy individuals to formil ester then the activated neutrophils will (IN DHR TEST)

A

reduce DHR - increased fluerescence

83
Q

individuals with CGD, when you expose them to formil ester they do not

A

reduce DHR - non-functional

84
Q

what woudl you see in carrier of CGD on DHR?

A

review pg 27

85
Q

CHS results from

A

mutation in lysosomal trafficking regulator gene, LYST

86
Q

lysosomal traficking is impaired in CHS so ther will be

A

giant granules in lysosomes

87
Q

what else is impaired besides lysosomal trafficking in CHS

A

impaired chemotaxis, and abnormal NK cell activity

88
Q

symptosm of CHS besides impaired chemotaxis, and abnormal NK cell activity

A

albinism, neurological abnormalities

89
Q

LAD1 deficient in

A

CD18

90
Q

LAD2 deficient in

A

CD15

91
Q

CGD defect in

A

NADPH oxidase

92
Q

most common form of CGD is

A

x linked

93
Q

CHS results in mutation f what gene

A

LYST

94
Q

LYST controls

A

trafficking of lysosomes

95
Q

A50 tests for

A

alternative pathway activity

96
Q

CH50 tests for

A

deficiencies in the classic pathway by measuring the ability of the patient’s serum to lyse antibody-coated sheep erythrocytes.

97
Q

review my complement pathway thing

A

:D see also his pg 31

98
Q

can soluble be opsinized by complement

A

no

99
Q

deficiencies in components of early classical pathway lead to increase susceptibility of

A

immune-complex disease

100
Q

defects in alternative pathway

A

C3b which is required for opsinization of pathogens so susceptibility of

101
Q

why not imune compleex disease if you’re not generating C3d

A

you still have c4b

102
Q

what is most serious deficieny oc fomplenet

A

C3

103
Q

deficiency of C3 leads to susceptibility of

A

encapsulated bacteria

104
Q

without C5-9 can’t generate

A

MAC

105
Q

no C5-9 you are susceptible to

A

Neisseria

106
Q

Neisseria meningitidtis is

A

encapsulated

107
Q

Neisseria gonorrhoeae is

A

not encapsulated

108
Q

DAF and CD59 are anchored to

A

membrane

109
Q

neisseria species handeled by

A

MAC

110
Q

most people with neisseria disease have what form

A

encapsulated - so neisseria meningiditis

111
Q

deficiency in enzyme PIGA means that

A

DAF and CD59 cannot be anchored to membrane

112
Q

what does PIGA do

A

makes the GPi anchor to anchor DAF and CD59 to the membrane

113
Q

what does DAF do

A

displaces c2a from c4b (dissociation of c3 convertase)

114
Q

in absence of membrane associated DAF and CD59 we will get

A

complement activation on cell surface

115
Q

if we have deficiency of DAF and CD59 what disease do we get

A

Paroxysmal Nocturnal Hemoglobinuria (hemoglobin in urine)

116
Q

CD55 is

A

DAF

117
Q

DAF stands for

A

decay accelerating factor

118
Q

CD59 is

A

protectin & HRF

119
Q

C1 inhibitor deficiency gives rise to what disease

A

Hereditary Angioedema (HAE)

120
Q

most people with HAE have what type

A

type I

121
Q

HAE type I is classified by

A

low serum levels of normal C1-INH

so C1 inhibitor is not defective but there isn’t enough of it

122
Q

HAE type II is classifeid by

A

normal level of C1 inhibitor but it is not functional

123
Q

function of C1 inhibitor

A

displaces c1r and c1s from c1
displaces masp 1 and masp2 from MBL or ficolins
important in kinin and coagulation cascade

124
Q

why do you have edema in HAE

A

c1 inhibitor isn’t functioning well and it is important in kinin cascade, like braadykinin, so you get fluid into tissues

Immunology Block 4 (10 decks)

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