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Pathology > I - Immune Deficiencies > Flashcards

I - Immune Deficiencies Flashcards

1
Q

list sensor cells

A

epithelial
dendritic
macrophages
mast

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2
Q

4 ways sensor cells produce a response to infection

A
  • type 1 and 3 interferon production
  • recruitment of circulating neutrophils and monocytes
  • effector activity: phagocytosis and ROS
  • release of mast cell granules
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3
Q

describe induction of the adaptive immune response

A
  • pathogens are detected by dendritic cell subsets
  • dendritic cell subtypes release cytokines
  • type 1 interferons signal onto cytotoxic t cells –> lyse pathogens
  • CD4 / Th1 cells sustain cytotoxic t cell response
  • IL1B/6/23 and TGF-B signal to CD4 Th17 cells
  • CD4 FTh signals to germinal cell B cells
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4
Q

what cytokines and effector cells do CD4 Th1 ILC1 lymphocytes signal to?

A

IFN gamma, TNF alpha and IL2
–> macrophages and cytotoxic t cells

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5
Q

what cytokines and effector cells doCD4 Th17 ILC3 lymphocytes signal to?

A

IL 17A and IL22
–> neutrophils and epithelial cells

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6
Q

what cytokines and effector cells do CD4 follicular lymphocytes signal to?

A

IFN gamma, IL17A, IL4, IL21
–> germinal centre b cells –> memory / plasma cells –> release IgG, IgA, IgE

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7
Q

what chains make up immunoglobulins

A

2 soluble heavy and light chains

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8
Q

give the 2 regions of an antibody

A

Fab - fragment antigen binding
Fc - fragment crystallisable / constant

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9
Q

which part of the antibody recognises the antigen

A

Fab of both heavy and light chains

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10
Q

what part of the antibody determines the effector function

A

Fc heavy chain

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11
Q

what part of the antibody specifies the antibody isotype

A

heavy chain

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12
Q

4 main effector functions of IgG

A
  • activation of complement
  • clearance and elimination of antibody coated pathogens
  • transport and delivery of immunoglobulin to different body compartments
  • regulation of immune responses
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13
Q

define inborn errors of immunity

A

heterogeneous group of genetic disorders resulting in immune dysfunction and ill health

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14
Q

how many single gene defects (roughly) impact the immune response

A

485

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15
Q

what discovery has lead to a massive increase in discovery of inborn errors of immunity

A

DNA sequencing tech

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16
Q

what is the commonest cause of inborn errors of immunity?

A

antibody deficiency 37%

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17
Q

what types of inborn errors of immunity make up the majority?

A

antibody deficiency 37%
syndromes with immunodeficiency 17%
complement deficiencies 16%
congenital defects of phagocytes 16%
cellular / humoral immunodeficiencies 10%

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18
Q

list clinical features of most immune deficiencies

A

increased susceptibility to infection
AI disease
allergy
auto-inflammatory disease
viral related cancers eg EBV, HPV

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19
Q

which cellular component is the most common cause of inborn errors of immunity

A

B cell

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20
Q

what are syndromic infectious diseases commonly known as

A

primary immune deficiencies

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21
Q

what infection risk does primary immune deficiencies incur

A

susceptible to multiple infections
a large number of infectious episodes
rare, but opportunistic infections

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22
Q

who is affected by primary immune deficiencies

A

kids more than adults

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23
Q

what cell type is most affected in primary immune deficiencies

A

leukocytes

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24
Q

how can primary immune deficiencies present?

A

AI, inflammatory, allergic disordes or cancer

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25
Q

give examples of primary immune deficiencies

A

SCID - severe combined immune deficiency syndromes
XLA - x linked agammaglobulinaemia
CGD - chronic granulomatous disease

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26
Q

genetic inheritance of primary immune deficiencies

A

X linked or autosomal recessive

27
Q

person is susceptible to a single or few infection agents, with only a single or multiple episodes of infection. Dx?

A

familial infectious diseases

28
Q

who is most affected by familial infectious diseases

A

kids more than adults

29
Q

cell types affected in familial infectious diseases

A

leukocytes or epithelial cells

30
Q

genetics of familial infectious diseases

A

X linked, AR or AD

31
Q

examples of familial infectious diseases

A

mendelian susceptibility to mycobacterial disease
critical care influenza A pneumonia

32
Q

what triggers mendelian susceptibility to mycobacterial disease

A

gene defects cause failure to produce IFN gamma so can’t fight weakly virulent mycobacteria and BCG

33
Q

what gene defects cause mendelian susceptibility to mycobacterial disease

A

IFN gamma producing genes - IL12 / IL23
IFN gamma responding genes - IFN-gammaR and Tyk2

34
Q

describe pathway in normal response to mycobacterial disease

A

infected macrophages stimulated to produce IL12 / IL23
this induces T cells to make IFN gamma
IFN gamma acts on macrophages and neutrophils to stimulate TNF alpha and NADPH oxidase to eliminate pathogen

35
Q

what is wrong in mendelian susceptibility to mycobacterial disease

A

no generation or response to IFN gamma –> variable penetrance

36
Q

what R recognises influenza

A

TLR3

37
Q

what is made when influenza binds to receptor

A

type 1 interferons
promote interferon stimulated genes

38
Q

how do interferon stimulated genes affect replication of influenza

A

they control replication

39
Q

name a genetic susceptibility to TB

A

P1104A variant of tyk2

40
Q

how does p1104a affect TB susceptibility

A

it impairs il23 but not il12 production of ifn gamma
–> 80% go on to develop TB

41
Q

what mutation increases COVID19 mortality

A

type 1 interferon immune pathway mutation
some x linked TLR defects

42
Q

what ABs did 10% of severely ill COVID 19 patients develop

A

type 1 interferon ABs therefore dampening the response

43
Q

what errors of immunity lead to AID

A

t cell tolerance
t cell apoptosis
t reg function

also hypomorphic SCID gene

44
Q

2 main categories of monogenic autoinflamm disorders

A

Il1 inflammasomopathies (FMF)
type 1 interferonopathies (aicardi goutiers syndrome)

45
Q

what IEI causes allergic disorders

A

autosomal dominant (AD) STAT 3 loss of function (hyper IgE syndrome)

46
Q

what symptoms does STAT3 patient present with

A

eczema
staph aureus / fungal infections of skin and lung
bone disease
elevated IgE

47
Q

what can EBV cause in immune def patients

A

hodgkins
non hodgkins
smooth muscle cancers

48
Q

what IEI cause EBV to cause cancer

A

impairment in cytotoxic function - perforin def, XLP/XIAP def
loss of proximal signalling molecules for T cell activation and expression of NKG2D on NK/CD8 cells

49
Q

in which disease does a genetic mutation or AID cause between 10-20% of cases

A

severe SARS COV2 infection

50
Q

which IEI gets minor symptoms only

A

selective IgA deficiency

51
Q

which IEI has normal life expectancy

A

common variable immune deficiency

52
Q

Mx of common variable immune deficiency

A

weekly / monthly IgG therapy

53
Q

which IEI is life threatening

A

SCID

54
Q

Mx of SCID

A

transplant or gene therapy

55
Q

presentation of IEI infections

A

SPUR
severe- sepsis
persistent - multiple ABx needed to treat it
unusual infections - opportunistic eg PMJ, CMV
recurrent - 2+ pneumonias/yr or 8+ otitis media in a child

56
Q

what are other key presentation features of IEI

A

early onset refractory AI cytopenias
early osnet IBD, HLH, skin disease
difficult to treat allergic skin disease
unexplained viral cancers in pt <40 yrs old
FH of immune def or consanguinity

57
Q

Ix for immundeficiency

A

FISH
FBC - Hb, neuts, plats, lymphs
Ig - G/A/M/A
serum complement - C3,C4
HIV test

58
Q

what % of immune deficiencies will get picked up with FISH Ix

A

85%

59
Q

why is IgG important

A

key host defence in alevoli - in equilibrium with blood

60
Q

function of secretory IgA and IgM

A

protect URT and LRT

61
Q

where do secretory IgA/M come from

A

mucosal B cells rather than blood

62
Q

2nd line Ix for immune deficiencies

A

measure conc of vaccine ABs - tetanus, pneumovax
analysis of lymphocyte subsets using flow cytometry (eg CD4, CD8 etc)

63
Q

why is vaccine response important to determine

A

inappropriate vaccine response is diagnostic of primary AB deficiency syndromes

Pathology (87 decks)

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