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Immunology Block 4 > Immunodeficiencies II: Primary Deficiencies of Adaptive Immunity > Flashcards

Immunodeficiencies II: Primary Deficiencies of Adaptive Immunity Flashcards

1
Q

review pg 2

A

2

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2
Q

defect in x linked hyper IgM is not defect in B cell, defect is

A

CD40L mutation or deletion that compromises B cell/T cell interaction

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3
Q

humoral immunodeficiency can be caused by

A

b cell defect or t cell defect

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4
Q

intrinsic to b cell humora immunodeficiency:

A 
XLA
Selective IgA deficiency
CVID
Immunoglobulin IgG subclass deficiencies
Transient hypogammaglobulinemia of infancy
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5
Q

X linked agammaglobulinemia (XLA0 is also known as

A

bruton’s agammaglobulinemia

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6
Q

CVID stands for

A

common variable immunodeficiency

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7
Q

intrinsic to t cell humoral immunodeficiency:

A

X-linked hyper-IgM syndrome

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8
Q

draw out antibodies and infants graph

A

pg 6

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9
Q

neonate is protected at birtha nd for 6 months by passively transferred

A

IgG from mother

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10
Q

what is the only isotype that can cross placenta

A

IgG

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11
Q

at time of birth baby has what levels of IgG

A

adult levels (of its moms IgG)

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12
Q

first immunoglobulin that the baby will make

A

IgM

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13
Q

at birth the baby starts to make its own

A

IgG

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14
Q

before birth baby makes what Ig?

A

M and A

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15
Q

features of pts with b cell deficiencies

A

recurrent respiratory infections and streptoccemia

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16
Q

organisms that predominate infections for b cell deficienceis:

A

Streptococci, Staphylococci and Haemophilus spp.

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17
Q

vast majority of viral infections are controlled how well through individuals with no b cell

A

pretty well - t cell will take care of on its own pretty well

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18
Q

infants with primary immunodeficiencies will not present with symptoms before

A

6-9 motnhs b/c they whave moms IgG

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19
Q

agammaglobulinema means

A

deficiency in ability to make antibodies

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20
Q

when does XLA present

A

6-8 months

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21
Q

common to have pneumonia by 2-3 yo. and recurrent upper respiratory tract infections that may never completely resolve and may have measles and be able to get rid of it, in what disease

A

XLA

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22
Q

why do XLA pts not have tonsils

A

tonsil are greater than 90% b cells, so no b cells, no tonsils

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23
Q

why does XLA not have lymphadenopathy

A

no folicles expanding into secondary and germinal centers, so no enlareged lymph nodes

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24
Q

serum levels for pt with XLA

A

IgM not detectable

IgA and IgG low

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25
Q

tonxilar node of pt with XLA

A

no b cells so just connective tissue

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26
Q

flow cytommetry of pt with XLA

A

no b cells so no CD19 marker pg 14

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27
Q

XHIGM is due to defect in

A

t cell

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28
Q

defect in XHIGM is in

A

CD40L

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29
Q

XHIGM stands for

A

X-linked Hyper-IgM

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30
Q

CD40L is also known as

A

CD154

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31
Q

MOI for XHIGM

A

x linked recessive

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32
Q

activation of macrophages will be defective in XHIGM why

A

b/c the Cd40/40L is needed for activation of macrophages

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33
Q

neutropenia is sign of

A

XHIGM

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34
Q

neutropenia is probably due to what in XHIGM

A

neutrophils exhausted, they are doing so much work b/c they don’t have IgG to help them out so they exhaust themselves faster

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35
Q

all fungal infections require

A

cell mediated response

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36
Q

pts with XHIGM are risk for getting

A

Recurrent upper and lower respiratory infections with bacteria, Pneumocystis jiroveci, CMV, Cryptococcus

fungi cannot be controlled

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37
Q

cluse to XHIGm

A

boy with hypogammaglobulinemia wit low or absent IgG and IgA with normal or elevated IgM

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38
Q

what is treatment for XHIGM

A

IGIV and anti-fungals
no live virus vaccines
bone marrow transplanation

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39
Q

why would somebody with deficiecny in CD40L not have follicels or germinal centers

A

consequence of first t cell b cell interaction - it will not happen without CD40/CD40L interaction so no proliferating b cells os no follicular follicles or germinal centers

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40
Q

what is whole purpose of germinal center reaction

A

somatic hypermutation to increase affinity of antibody

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41
Q

what would happen in CD40L deficiency in regards to somatic hypermutation

A

little to none, the first interaction depdent on CD40L is not going to happen

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42
Q

review pg 18

A

18

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43
Q

CD40L only expressed on T cells after

A

activation - and then transiently

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44
Q

t ells have to be ____ to express CD40L

A

activated

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45
Q

CD25 is a marker of

A

activated t cells

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46
Q

CD25 is

A

alpha chain of IL-2 receptor

it converts IL-2 to high affinity IL2

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47
Q

how do you know t cells are activated when you do flow cytometry

A

look for CD25 b/c it is marker of activated t cells

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48
Q

review pg 19

A

19

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49
Q

lymph node with hyper-IgM vs. not

A

no germinal centers in pt with hyper-IgM

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50
Q

autosomal form of hyper-IgM is usually caused by

A

AID deficiency

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51
Q

AID is required for

A

class switching

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52
Q

defect in function of AID causes

A

most common autosomal recessive form of hyper-IgM syndrom

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53
Q

HIGM2 is

A

autosomal recessive form of Hyper-IgM syndrom with lack of AID

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54
Q

AID satnds for

A

Activation-Induced Cytidine Deaminase

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55
Q

three major abnormalities characterized by AID deficiency:

A
  1. lack of immunoglobulin somatic hypermutations
  2. the absence of immunoglobulin class switch recombination
  3. lymph node hyperplasia caused by the presence of giant germinal centers.
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56
Q

HIGM2 from x linked - what are they distinguished by

A

HIGM2 has giant germinal centers

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57
Q

why does HIGM2 have giant germinal centers?

A

it will have the first b cell t cell interaction and they proliferate like crazy. there is no defect in CD40L here so b cells will go into follicel and proliferate, but they can’t mtuate the rearranged VJ or VDJ so no b cell has advantage over the other, they won’t increase affinty so nobody is outcompeting, so you get giant follicles
in the x linked version they won’t proliferate

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58
Q

selective IgA deficiency is

A

The severe deficiency or total absence of IgA both serum and secretory IgA.

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59
Q

what is most common of primary immunodeficiency

A

selective IgA deficiency

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60
Q

majority of individuals with selective IgA deficiency defect is unknown but there are genes associated

A

:)

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61
Q

b lymphocytes appear normal in selective IgA deficiency but do not

A

mature into IgA producing plasma cells

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62
Q

selective IgA deficiency most common in indviiduals with

A

european descent

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63
Q

how does one get selective IgA deficiency

A

familial, can also be acquired by measles or viral infection

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64
Q

what is weak in selective IgA deficiency

A

Mucosal defenses weakened; infections in respiratory, GI, urogenital tracts common.

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65
Q

how do pts with selective IgA deficiency present

A

Asymptomatic to symptomatic: patients present with recurrent sinopulmonary infections and diarrhea

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66
Q

NOTECARD PG 23

A

23

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67
Q

CVID stands for

A

Common Variable Immunodeficiency

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68
Q

CVID is:

A

CVID is a disorder characterized by low levels of serum immunoglobulins and increased susceptibility to chronic, recurrent sinopulmonary infections. Relatively “common” and degree and type of deficiency is “variable” from patient to patient.

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69
Q

unlike other primary Ig deficiencies the presentation of CVID is frequently

A

much later in life - early adulthood (most others present as babies)

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70
Q

treatment of pts with CVID

A

antibiotics, intravenous IG

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71
Q

B cell numbers in CVID

A

normal

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72
Q

T cells in CVID

A

normal

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73
Q

B cells are normal in CVID but

A

they decrease with time

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74
Q

the genetic defects in CVID all involve

A

roles in b cell and plasma cell survival and isotype switch

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75
Q

individuals with CVID have decreased wht in b cells

A

decreased isotyped switching and decreased memory cells for b cells

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76
Q

why do you get IgG levels at all (or any Ig) with XLA?

A

depends on how bad the mutation is and how inactivating that mutation is

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77
Q

XLA is what MOI

A

x linked recessive

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78
Q

male or female more likely to get XLA

A

male

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79
Q

peripheral blood lymphocytes from female carriers show skewed, or non random x chromosome inactivation, why?

A

it’s not really non-random in the b cell lineage - any b cell that has inactivated the x chrom that has the functional BTK is not going to make it through b ccell development, so the only ones that make it htrough the periphery in carriers are the ones that have inactivated the x chrom that carriers the effective allele. so it looks like non-random x chrom activation - during b cell development it’s not random - its chosen b/c they are the only ones that will make it

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80
Q

if mutation is totally inactiativating in XLA what will youdetect in serum

A

no b cells and no Ig

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81
Q

what is the marker of B cells

A

CD19

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82
Q

CD19+ is a marker of

A

b cells

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83
Q

flow cytommetry to look for CD19+ cells in pts with XLA you won’t find them in individuals where:

A

tyrosine kinase mutation is totally inactivating

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84
Q

where is block in b cell maturation in XLA

A

pre-b cell stage

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85
Q

what are t cell levels in pt with XLA

A

normal

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86
Q

should pts with XLA receive live vaccines

A

no

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87
Q

when will pts with XLA show symptoms

A

once mothers igG is below protective threshold

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88
Q

draw out b cell maturation in bone marrow

A

pg 10

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89
Q

need stem cell factor binding to what in b cell maturation in bone marrow

A

ckit

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90
Q

what does IL-7 need to bind to in b cell maturation in bone marrow

A

IL-7R

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91
Q

what is required for rearrangement in b cell

A

RAG1 and RAG2
RSS
Tdt

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92
Q

what does Tdt add

A

N nucleotides

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93
Q

block in b cell development in XLA is at

A

pre b cell stage

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94
Q

pre B cell receptor is

A

IgM (mu heavy chain) with surrogate light chain

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95
Q

to get beyond pre b cell receptor you need to do what

A

tell the cell that the pre b cell receptor works

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96
Q

signaling through the pre b cell receptor is dependent on

A

BTK

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97
Q

BTK stands for

A

bruton’s tyrosine kinase (what is mutated in XLA)

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98
Q

why can the cell not go beyond pre b cell in XLA

A

the BTK is mutated and that is what is needed to tell the cell that the pre b cell receptor works

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99
Q

consequences of signaling through the pre b cell receptor

A

exclude further rearrangement at heavy chain - allelic exlcusion
proliferation to make most of heavy chain you have
generate light chain - initaite VJ to join

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100
Q

the signaling part associated with the b cell receptor is

A

Igbeta and Igalpha ad ITAM

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101
Q

what is the CD for Igbeta

A

CD79b

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102
Q

what is the CD for Igalpha

A

CD79a

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103
Q

what besdies Btk can be defective/mutated in autosomal recessive forms of agamaglobinemia

A

mutations in Igalpa or Igbeta

lambda 5 - component of surrogate light chain

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104
Q

review pg 12, female non random x chrom inactivation for XLA

A

12

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105
Q

in female carrier of XLA if you sample serum, the only b cells you will find have:

A

they are the ones that silenced the defective BTK so only the working BTK cells will be expressed in the periphery, the other ones wouldn’t make it out

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106
Q

deficiency in one or two IgG sublcasses where other immunoglobulin levels are normal and suffer recurrent infection is what deficiency

A

selective IgG subclass

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107
Q

Selective IgG Subclass Deficiency is less severe than

A

XLA & CVID

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108
Q

predominant IgG sublcass

A

IgG1

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109
Q

IgG2 deficiency is common in

A

children

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110
Q

IgG3 deficiency is common in

A

adults

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111
Q

ppl deffecicent in IgG4 often also deficient in

A

IgG2

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112
Q

deficiency of IgG1 comomon in

A

trick - not common, it is rare

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113
Q

family members with IgG subclass deficiency can also have

A

selective IgA deficiency or CVID

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114
Q

diagnosis of Selective IgG Subclass Deficiency

A

History of recurrent infections of ears, sinuses, bronchi and /or lungs.
Low level for age of IgG subclass and normal levels of other immunoglobulins.
Normal numbers of B and T cells
Normal function: DTH and lymphocyte stimulation
IgG2 subclass deficiency: unable to produce antibodies when immunized with polysaccharide vaccines
Some children outgrow IgG subclass deficiency

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115
Q

treatment of selective IgG sublcass def.

A

antibiotics for infections or prophylactically

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116
Q

what is level of IgG sublcass for IgG subclass deficiency

A

low level for age

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117
Q

what is level of Ig besides IgG in IgG subclass deficeincy

A

normal

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118
Q

IgG2 dominates the response against

A

capsular polysaccharides

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119
Q

if there is IgG2 subclass deficiency, what is the major reason why this is bad

A

they can’t produce antibodies when immunized with polysaccharide vaccines

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120
Q

most dominant IgG

A

1

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121
Q

least dominant IgG

A

4

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122
Q

what IgG take longest to reach adult levels

A

IgG2 and 4

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123
Q

IgG1 and 3 are most efficeicnt to

A

activate complement - most efficient is 3

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124
Q

IgG2 can compensate for

A

1 and 3, can fill in for response to conjugate polysaccharide vaccine

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125
Q

x linked agammaglobulinemia - genotype? phenotyep?

A

bruton’s tyrosin kinase, no b cells

126
Q

x linked hyper IgM, genotype and phenotype?

A 
CD40L mutated
no class switch, no germinal centers
127
Q

AR hyper IgM genotype and phenotype?

A

AID, no class switch, giant germinal centers

128
Q

x linked and AR hyper IgM feature

A

No somatic hypermutation

129
Q

selective IgA deficiency, genotype and phenotype?

A

defect unknown, can have anti-IgA

130
Q

CVID, genotype and phenotype?

A

various defects (unknown majority)_, adolescent and older onset (20-30s)

131
Q

selective IgG sublass defieicny, genotype & phenotype?

A

defect unknown, usually discovered inadvertently

132
Q

review pg 32

A

32

133
Q

vast majority of cases of t cell defieincy, will also impact

A

b cell function

134
Q

what is almost always imapcted by t cell deficiency

A

cell mediated and humoral

135
Q

defects in CD4 T cell development can result in

A

severe combined immunodeficiencies b/c then they can’t help b cell, so impact antibody production. b cell non functional b/c no help from t cell

136
Q

SCID - impact in purine salvage pathway results in

A

toxic metabolites

137
Q

if you cannot signal from t cell receptor, t cells cannot become activated, so then they cannot

A

provide help to b cells

138
Q

defects in antigen receptor gene rearrangemnt can result in

A

SCID

139
Q

genetic defect in thymic function that block t cell development result in

A

seere immunodeficiencies

140
Q

complete absence of thymus is very

A

rare - there is usually some thymic tissue

141
Q

repeated viral or fungal infections suggests what disorder

A

t cell

142
Q

JAk 3 deficiency results in failrue to signal through

A 
interluekin receptors (2 & 7)
interluekin signal through JAK STAT pathway
143
Q

omenn syndrome results in mutations from

A

VDJ recombination - usually RAG 1 or RAG2

144
Q

Omenn syndrome b cell and t cells tend to be

A

autoreactive

145
Q

describe RAG1 and RAG2 ain omenn syndrome

A

usuallyk have some function

146
Q

mutations in TAP1 and TAP2 give rise to what syndrome

A

MHC class I defieicny

147
Q

why do mutation sin TAP1 & 2 result in MHC1 def.

A

don’t get peptide binding to class I

148
Q

MHC1 deficiency is calls

A

bare lymphocyte syndrome 1

149
Q

BLS stands for

A

Bare Lymphocyte Syndrome (BLS) Type I

150
Q

in BLS there is no

A

MHC class I

151
Q

most common mutations in BLS

A

TAP1 and TAP2

152
Q

abnormality in BLS?

A

no CD8 T cells

153
Q

MHC I what won’t be able to respond

A

CD8 T cells

154
Q

need mHC I in thymus to allow

A

cells to be selected that can bind to MHCI

155
Q

review endogenous pathway, MHC I, positive selection< CD8 T cells

A

block 2 ppt 6 pg 39

156
Q

BLS1 doesn’t really present with

A

increased susceptibility - they have cytotoxic t cell function - they are cytotoxic CD4 t cells

157
Q

cytotoxic t cells kill

A

virlly infected cells

through release of performin & granzymes & slower fas ligand patway

158
Q

how do cytotoxic t cells kill

A

release perforin & granzymes

159
Q

in absence of CD4 t cell will get

A

SCID

160
Q

increased susceptibility to what in CD4 deficiency

A

all pathogens

161
Q

failure to express MHC II results in what disease

A

Bare Lymphocyte Syndrome Type II (BLS Type II)

162
Q

where are most mutations in MHC II for BLS type II

A

class II transactivatory and regulatory factor X genes

163
Q

failure to make MHC II results in failure to

A

failure to select CD4 t cells

164
Q

without CD4 t cells, you are not going to have

A

Ig

165
Q

BLS II is form of

A

SCID

166
Q

review exogenous pathway, HC II, positive selection, CD4 t cell

A

previous blocks yay

167
Q

CD4 t cells required for what kind of immunityt

A

cell mediated & humoral immunity

168
Q

SCIDS stands for

A

Severe Combined Immunodeficiency Syndromes (SCIDS)

169
Q

most common form of SCID

A

x linked recessive form

170
Q

withotu common gamma chain cannot signal through

A

any interleukin receptor

171
Q

what is really important receptor for t cell

A

IL-7 R

172
Q

x linked SCID is caused by what deficiency

A

common gamma chain def.

173
Q

CD45 gives rise to SCID, why?

A

need CD45 during t cell activation it activates SRC family kinases, it dephosphorylates them and activates them

174
Q

IL-7 alpha gives rise to SCID, why?

A

IL-7 to IL-7R required for t cell development

175
Q

artemis gene is component of gives rise to SCID, why?

A

VDJ recombinaze

176
Q

RAG1 or 2 mutation gives rise to SCID, why?

A

don’t have RAG1 or 2 can’t rearrange antien receptors, no b or t cells

177
Q

CD3 delta chain def. gives rise to SCID, why?

A

can’t signal through t cell receptor

178
Q

CD3 mutations will impact what

A

T cell with phenotype similar to XLA in b cell compartment -b/c CD3 is not just signaling of t cell, ,it is also of pre-TCR so no functional CD3 will not make it past pre-T stage

179
Q

Jak3 def. gives rise to SCID, why?

A

phenotype similar to def. of IL-7R alpha chain b/c JAK3 associated with IL receptors

180
Q

most common form of autosomal forms of SCID is

A

def. in ADA (adneosine deaminase)

181
Q

autosomal recessive SCID are due to

A

ADA or PNP deficiencies

182
Q

ADA is

A

Adenosine deaminase

183
Q

PNP is

A

Purine Nucleoside Phosphorylase

184
Q

what do all SCID have in common

A 
impact more than one leukcyte lineage b/c they impact function of CD4 T cells
rare and often fatal
often have a rash
lymphopenia (reduced lymphocytes)
no cell mediated immune response
no humoral immune response
lymph node hypoplasia (few or small lymphocytes)
treatment: bone marrow transplant
185
Q

review pg 46

A

46

186
Q

you do have b cells in x linked SCID but they are

A

non functional in absence of t cell help

187
Q

ADA is required for converstion of

A

pg 50

188
Q

ADA def. is what form of SCID

A

AR

189
Q

what causes SCID in ADA def.

A

Accumulation of adenosine, deoxyadenosine, and dATP is toxic for lymphocytes.

T -, B -, NK - , ALL NEGATIVE
190
Q

what cells do you have in ADA def. form of SCID

A

T -, B -, NK - , ALL NEGATIVE

191
Q

what is phenotype of ADA def. form of SCID

A

T -, B -, NK - , ALL NEGATIVE

192
Q

PNP def. not as severe as

A

ADA

193
Q

PNP def. not as severe as ADA why

A

it is not as toxic

194
Q

ataxia is

A

unstable gait/difficulty walking

195
Q

mutation in JAK3, what is phenotype

A

T-, B+ SCID

196
Q

CD45 def what is phenotype

A

T-, B+ SCID

197
Q

IL-7Ralpha def. what is phenotype

A

T-, B+ SCID

198
Q

CD3 gamma or CD3 epsiolon def. what is phenotype

A

T-, B+ SCID

199
Q

IL-7 is required for

A

VDJ joining

200
Q

CD45 is expressed on what

A

all WBC (leukocytes)

201
Q

without common gama chain you cannot signal through

A

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

202
Q

x linked scid phenotype

A

T-, B+, NK-

203
Q

review pg 56, describe x linked SCID

A

56

204
Q

why can you not look at T cells on X linked SCID

A

there are none

205
Q

IL-2 induces proliferation of

A

B cells

206
Q

Th1 induces what IL

A

IL-2

207
Q

non-random inactivatio nof x chrom in carrier’s b/c

A

only t cells that have inactivated non fxl one will get to periphery

208
Q

all SCID will present with what opportunistic infection

A

thrush (candida alibcans)

209
Q

XHIGM does not arise due to mutation intrinsic to b cell lineage, mutation is in

A

t cell lineage - CD40L

210
Q

defects in CD4 T cell development can result in

A

SCID

211
Q

mutations that impact CD4T will present as

A

SCID

212
Q

BLS2 due to mutations in

A

TF required for expression of MHC II alpha dn beta chains - so not class II on surface so no selection for CD4 T cells

213
Q

most common form of SCID

A

x-SCID

214
Q

XSCID due to mutation of

A

signaling chain of IL-2 - common gamma

215
Q

individuals with x linked scid fail to develop

A

t cells

they do develop b cells but they are non functional

216
Q

IL-2Ralpha chain deletion will inhibit

A

T cell development in thymus

217
Q

ADA-SCID and PNP-SCID if they are deficienct can lead to buildup of

A

adoxyadenosine in ADA and guanine in PNP

218
Q

ADA and PNP normally expressed in

A

other cells that can detoxify them. lymphocytes can’t detoxify them. the metabolic bi-products are toxic to lymphocytes

219
Q

ADA scid differes from x linked scid b/c the individuas are

A

t cell - and b cell -

no t or b cells

220
Q

if there are defects in signaling in t cell antigen receptor it will cause

A

SCID

221
Q

CD3 required for signaling from

A

pre t cell receptor and t cell receptor

222
Q

if CD3 non functional will not pass

A

pre t cell stage

223
Q

mutation of CD3 is kind of like equivalent of

A

XLA, b/c you are stuck in pre b cell in XLA and stuck in pre t cell in CD3 mutation

224
Q

how does defect of CD45 impact TCR transduction

A

enzymes needed for phosphorylation of ITAMs are maintained by phosphate, the phosphate is removed by CD45. so can’t get to next step without active CD45

225
Q

JAK3 more associated with signaling through what receptors

A

cytokine receptors

226
Q

alpha chain of IL-2R also known as

A

CD25

227
Q

JAK3 kinase is associated with

A

IL-2R gamma o the common gamma chain

228
Q

if common gamam chain is ther but can’t signal through it might have what deficiency

A

JAK3

229
Q

what is phenotype of JAK defeciency

A

T-, B+, NK – same phenotype as X-linked SCID

230
Q

IL 7 binding to IL-7R in thymus does what

A

opens up t cell thymus receptor loci for rearrangemnt

231
Q

without signaling through IL-7 won’t get

A

T cell rearrangement

232
Q

common gamma chain what is CD

A

cD132

233
Q

phenotype of X linked scid and jak scid, what isi the difference in presentation

A

presentation similar but x linked only males

jak is AR males and females

234
Q

mutations in RAG-1, RAG-2, artemis could be what syndrome

A

omenn syndrome

235
Q

RAG-1, RAG-2 and artemis usually don’t knowck out function of genes, there is usually

A

still some t cells and b cells developing

236
Q

mutation sin RAG1, RAG2, artemis are components of

A

VDJ recominase

237
Q

omenn syndrom eresults from mutations where

A

rag1, rag2, artemis

238
Q

omenn syndrome is also sometimes referred to as

A

Familial reticuloendotheliosis with eosinophilia

or SCID with hypereosinophilia

239
Q

omenn has high levels of

A

eosinophils

240
Q

what is hallmark of omenn syndrome

A

high levels of eosinohpils

241
Q

in indivudlas with omenn, defect in t cell devlopment in thymus leads to

A

abnormal development of medllary thymis epithelial cells and low expression of AIRE (don’t know why it happens)
don’t get enough presentation of antigens in thymic medulla

242
Q

poore negative selection in omenn b/c

A

low expression of AIRE

243
Q

why do omenn syndrom also rpesent with autoimmune disease

A

/c of low aire expression so t cells that get through can be autoreactive

244
Q

in add’n to poor negative selection, aire is also required for

A

t reg

245
Q

omenn has less t reg b/c of lack of aire, which also contributes to

A

autoimmune disease

246
Q

VDJ recombinase require

A

RAG-1, RAG-2, Tdt, Artemis

247
Q

RAG1 and RAG2 determine

A

what will recombne together - 12 23 rule

248
Q

what does artemis do

A

opens the hairpin

249
Q

withotu functional RAG1 and RAG2 will not get

A

VDJ recombination

250
Q

without functional artemis will not get

A

VDJ recombination

251
Q

2% of lymphocytes are in blood the rest are in

A

secondary lymphoid tissue

252
Q

more t cells or b cells in peripheral blood

A

t cells

253
Q

how does omenn syndrome present

A

rash due to type 1 hypersensitivity response b/c of elevated IGE

254
Q

what will you find in blood test for omenn syndrome

A

elevated eosinophils and IgE (so there has to be b cells)
low lymphocytes and neutrophils
decreased t cells
No b clls detected in peripheral bloood (But they are there just not detected)
mostly oligoclonal CD4+ cells (small number of t cell clones)
no thymic shadow

255
Q

failure to develop thymus give rse to

A

SCID

256
Q

Classic thymic function defect

A

DiGeorge syndrome

257
Q

complete DiGeorge is extremely

A

rare

258
Q

definition f DiGeorge syndrome

A

Definition: a primary immunodeficiency caused by abnormal development of fetal cells and tissues of the neck (parts of face, brain, thymus, parathyroid glands, heart and aorta).

259
Q

immune defiict of DiGeorge is due to

A

hypoplasia or aplasia of thymus

260
Q

due to effects on parathyroid pts with DiGeorge syndrome pts will often have

A

neonatal hypocalcemia

261
Q

if there is thymic aplasia increased susceptiblity to

A

infection due to deficit of t cells

262
Q

what beside thymus is affected by digeorge syndrome

A

cardiac defects

263
Q

what is MOI for digeorge syndrome

A

AD

264
Q

most digeroge resuts from what deletion

A

22q11

265
Q

depending on deletion in digeorge determiens

A

severity of disease - might have just a little hypoplasia of thymus

266
Q

how can digeorge syndrome present

A

Highly variable expression of the following:
Chest x-ray may reveal lack of thymic shadow.
T cell responses absent or severely diminished.
Low numbers of circulating T cells (CD3+).
Recurrent or chronic infection with viral, bacterial fungal or protozoal organisms (chronic runny nose, recurrent pneumonia including PCP, thrush, and diarrhea).
Most have normal B-cell immunity, but some have low immunoglobulin levels and fail to make specific antibodies following vaccination.
Treatment: thymic transplant for patients with ‘complete DiGeorge Syndrome’

(pg 70)

267
Q

if there is impact on t cel development in digeorge there will be

A

chronic infection with what t cells are involved with:viral, bacterial, fungal or protozoal organisms

268
Q

if t cell development severly impacted pts with digeorge will present with

A

opportunistic infections like thrush, pneumonia

269
Q

thymic aplasia what is treatment for digeorge

A

thymic transplant

270
Q

look at thymic shadow vs. non in digeorge

A

pg 71

271
Q

review pg 73

A

73

272
Q

deficiency in IFN gamma receptor

A

The normal pathways for host defense against intracellular bacteria are pinpointed by genetic deficiencies of IFN- and IL-12 and their receptors.

273
Q

IFN gamma important for

A

controlling intracellular bacterial infections (like TB and leprae)

274
Q

defects in IFN gamma receptor or one chain of IL-12 are susceptible to what

A

intracellular bacterial infections & fungal infections

275
Q

XLP stands for

A

X-linked lymphoproliferative syndrome

276
Q

XLP what is impacted?

A

secretory killing phathway of lymphocytes.
stimulated to proliferate in unctorlled manner so proliferative aspect of disease, susceptiblity to increased viral infections b/c they can’t effectively kill virally infected cells

277
Q

Hemophagocytic lymphohistiocytosis is characterized by? (part of XLP)

A

activated macrophages engulfing RBC

278
Q

what kind of virus often causes problems with XLP

A

epstein-barr virus

279
Q

where is defect in XLP

A

SH2D1A

280
Q

in absence of SLAM associated protein do not get efficient

A

differentiatoin into cytotoxic t cells - which are main cells that control EBV infection

281
Q

what are main cells to control EBV infection

A

cytotoxic t cells

282
Q

WAS stands for

A

Wiskott-Aldrich Syndrome

283
Q

AT stands for

A

Ataxia-Telangiectasia

284
Q

gene mtuated in WAS

A

WASP

285
Q

WASP important for

A

reorganization of cytoskeleton, esp for t cells b/c they have to reorganize their cytoskeleton to help other cells

286
Q

cytoskeletal reoganization required for

A

migration

287
Q

impaired chemotaxis of phagocytes in

A

WAS

288
Q

AT mutation that impact

A

double stranded DNA repair

289
Q

enzymes of double stranded DNA repair in AT are invovled in

A

VDJ recombination

290
Q

WAS classically presents with “classic triad”:

A

thrombocytopenia
severe eczema (by one year of age)
recurrent pyogenic infections, bloody diarrhea

291
Q

recurrent pyogenic infections due to what in WAS

A

inability o ft cell to provide help to b cell to opsonize bacteria

292
Q

severe eczema in WAS due to

A

hypersensitivity response - they ahve elevated levels of IgE

293
Q

why do pts with WAS have high IgE

A

do’nt know :(

294
Q

b/c t cells cannot provide help to b cells in WAS suseptibility to infections by

A

encapsulated bacteria

295
Q

treatment for WAS

A

BMT

296
Q

what is mOI for WASP

A

x linked recessive

297
Q

female carriers of WAS exhibit

A

skewe or non-random x chrom. inactivation

298
Q

Where is WASp expressed

A

all white blood cells and megakaryocytes

299
Q

what is the HSR in excema for WAS

A

tyep I HSR

300
Q

gene impacted in AT

A

ATM gene

301
Q

main features of AT

A 
unstable gait (ataxia)
dilation of vessels in eye
recurrent infections (respiratory and sinus)
302
Q

unusual feature of AT is:

A

strongly associated with IgA deficiency

303
Q

what kind of deficiency is very common in pts with AT

A

IgA def.

304
Q

high rate of what disease in pts with AT

A

leukemia & lymphoma

305
Q

what is MOI for AT

A

AR

306
Q

most individuals with AT have elevated serum levels of

A

alpha fetoprotein

307
Q

what is serum test tosee if pt has AT

A

alpha fetoprotein

308
Q

what is often test to see if pt has AT

A

radiation - they are very suseptible to breaks in chrom. due to radiation

309
Q

BLS 1 impacts class I expression where

A

all cells on body (MHC 1 is everywhere)

310
Q

review pg 84

A

84

311
Q

review pg 85

A

85

312
Q

review pg 86

A

86

Immunology Block 4 (10 decks)

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