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RACP Written > Immunology > Flashcards

Immunology Flashcards

1
Q

What if familial mediterranean fever causes by?

A

Familial Mediterranean fever is an autosomal recessive disease resulting from biallelic pathogenic mutations in the MEFV gene, coding for pyrin. It is understood that mutations in the MEFV gene cause gain of function of pyrin protein such that it propagates inflammation following a relatively insignificant trigger, and without needing an external toxin or infective agent.

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2
Q

What are the three features of Muckle Wells?

A

periodic fevers, progressive hearing loss and amyloidosis nephropathy

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3
Q

What is the mechanism by which propranolol causes hypos in babies?

A

Propranolol causes inhibition of hepatic glucose production promoted by
sympathetic nervous stimulation and inhibits glycogen breakdown especially
in the context of illness and fasting

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4
Q

WHat is the most common allergen in babies and toddlers?

A

Milk

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5
Q

What type of reaction is Steven Johnson syndrome

A

Type 4 hypersensitivity

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6
Q

What cells make the innate immunity system?

A

Dendritic cells, phagocytes, complement, NK cells, neutrophils and complement

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7
Q

What does the innate immunity recognise? Ie what do the cells respond to?

A

PAMPs and DAMPs

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8
Q

A defect in which toll-like receptor causes HSV encephalitis

A

TLR3 deficiency

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9
Q

What is the key defect in leukocyte adhesion deficiency? And what is the classic presentation?

A

Delayed cord separation.
Defect in neutrophils- not as sticky

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10
Q

What are the four hypersensitivity reactions mediated by? Hint each one is different

A

Type 1: IgE mediated
Type 2: antigen-antibody binding
Type 3: immune complexes
Type 4: T cell mediated hypersensitivity, delayed

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10
Q

What are the four hypersensitivity reactions mediated by? Hint each one is different

A

Type 1: IgE mediated
Type 2: antigen-antibody binding
Type 3: immune complexes
Type 4: T cell mediated hypersensitivity, delayed

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11
Q

What are central vs peripheral lymphoid organs

A

Central- generation lymphocytes ie thymus and bone marrow
Peripheral- for developing adaptive immune response ie spleen, lymph nodes, MALT

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12
Q

What cells come from lymphoid progenitors

A

T cells
B cells and NK cells

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13
Q

What are the three types of phagocytes

A

monocytes/macrophages
neutrophils
dendritic cells

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14
Q

Name 3 professional antigen presenting cells?

A

Macrophage, B cells and dendritic cells- activate T cells

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15
Q

What are CD19/20 cells?

A

Immature B cells that sit in the blood until they are activated by an antigen, after which they become a plasma cells

Plasma cells are CD27

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16
Q

What are TRECs a marker of?

A

Essentially T-cell receptor excision circles which are made from excision of intervening gene segments during the VDJ recombination of TCR- indicates normal T cell development and thymic function. Used as marker for SCID

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17
Q

What does AIRE do?

A

Autoimmune regulator so essentially simulates thymic expression of many self-antigens. Lack of AIRE–> APECED

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18
Q

What is APECED

A

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyendocrinopathy, candidiasis , hyopparathyroidism and aderenal gland insufficiency

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19
Q

What is the process by which high reactive T cells to self antigen (MHC) undergo apoptosis

A

Negative selection

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20
Q

Which MHC is on professional APCs

A

MHC II

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21
Q

Which MHC is on CD4 vs CD8 T cells

A

Remembers always have to multiple to be 8 so.
CD4 = MHC 1
CD8= MHC2

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22
Q

What does a deficiency in IRAK4/MyD88 lead to?

A

Essentially these are invlved in the signal transduction pathway in the innate immune system. Deficiency or mutation –> recurrent pyogenic infections in early life.

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23
Q

What does a failure of the classical complement pathway lead to?

A

type 3 hypersensitivity
Because immune complexes build up. Can cause lupus.
C1q is the main player.

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24
Q

What does an MBL def lead to?

A

Recurrent sinopulmonary infections

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25
Q

What does a deficiency in C1 inhibitor (part of complement pathway) lead to?

A

Episodic angioedema
Treat with C1 ie Berinet

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26
Q

What is the classical complement pathway driven by>

A

Antigen-antibody complexes

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27
Q

What is the risk of complement def? (In terms of pathogens)

A

Neisseria- gono or meningitides

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28
Q

What are the two main triggers for release of interferon?

A

viral illness and neoplasm

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29
Q

What is the relationship between IBD and IL-10

A

Present in kids with IBD <10 months of age. 10x worse prognosis.

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30
Q

How do APCS deliver antigens to T cells?

A

On MHC

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31
Q

What makes up an immunologlobulin molecule?

A

2 heavy and 2 light chains.

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32
Q

What region of the immunoglobulin defines the isotype and effector function

A

The constant region of heavy chain

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33
Q

Which Ig crosses placenta?

A

IgG
IgG GOES across the placenta

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34
Q

What is C1 related to?

A

Calcium.

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35
Q

What does C3 do

A

Central role in forming MAC

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36
Q

What is the action of C3a and C5a

A

chemotaxins and anaphylotxins

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37
Q

What does a deficiency in C1-C4 present with?

A

Can’t remove antigen antibody complexes- causes lupus like illness, CKD and repeated infections
ALso strep

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38
Q

What does C5-9 def present with

A

No MAC so Neisseria infections. Note C9 not AS important as the others

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39
Q

What does C3b do?

A

Opsonin- marks cells and acts as a sticky agent to pahgocytes to destroy

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40
Q

Difference between hypertrophy and hyperplasia?

A

Hypertrophy= enlarged cells
Hyperplasia= increased NUMBER of cells

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41
Q

What are actions of bradykinin

A

vasodilation, increased vascular permeability and pain. Also lowers BP.
ACE inhibitors act by reducing degradation of bradykinin to continue BP lowering effect.

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42
Q

How do steroids affect the elucoyte adhesion cascade

A

Block selections and integrins from the endothelial wall which enable leukocytes to adhere to the wall and become activated. So essentially neutrophils are stuck and can’t get to the right area

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43
Q

What does CGD present with and what is the pathophys

A

Recurrent candida abscess.
Essnetially cant produce the NADPH oxidative burst required- which makes reactive oxygen species

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44
Q

Issue in what cell causes HLH

A

NK cells. Loss of killing function causes massive uncontrolled inflammatory response

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45
Q

When do T cell defect immunodeficiencies present

A

AT birth.

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46
Q

What infections are commonly associated with T-cell def

A

mycobacteria, pseudomonas, CMV, EBV, varicella, enterovirus, phemocystis jiroveci, FUNGAL

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47
Q

Presentation for T cell def?

A

FTT, dairrhoea and candidiasis

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48
Q

What is the onset age of PID associated with B cell defects

A

~5-12 monnths after maternal antibodies are done.

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49
Q

What infections are commonly associated with B cell defect?

A

Strep pneumoniae, Hib, Staph aureus, Enterovirus, Giardia

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50
Q

When do phagocytic defects present

A

Younger age

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51
Q

Common infections related to phagocytic defects? ie CGD

A

Staph, aspergillus, nocardia, candidia, pseudomonas
THINK INTIAL BARRIER

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52
Q

What do complement def present with

A

Typically Neisseria/recurrent meningococcal, also others associated with loss of clearance ie lupus , CKD etc.

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53
Q

What is the difference between antigenic drift and shift?

A

Antigenic shift involves genetic reassortment and is associated with pandemics, such as the emergence of SARS-Cov2.

Antigenic drift involving point mutations of viral haemagglutinin or neuraminidase are associated with the epidemics typically associated with Flu and necessitate updating vaccine antigen composition; e.g. the emergence of variants of SARS-Cov2.

SHIFT= SARs COV

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54
Q

What is Chediak Higashi associated with?

A

ALBINISM, EASY BRUISING, RECURRENT INFECTIONS
Chediak Higashi are associated with oculocutaneous albinism, easy bruising, recurrent infections. It is a result of abnormal function of natural killer cells due to mutation in the lysosomal trafficking regulator gene. There are large lysosomal granules noted in the WBC and bone marrow on biopsy.

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55
Q

What is properdin?

A

Binding and regulator of alternative complement pathway by stabilising C3/C5 convertase

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56
Q

What does properdin deficiency present with? What is the inheritance of this condition?

A

X-linked, essentially unable to regulate alternate complement pathway.
Presents with FAST onset of infection- usually meningococcal septicaemia

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57
Q

What is CD3 a marker of?

A

Thymic T cells (before they switch to CD4 and CD*)

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58
Q

Defiencies in which type of cells normally leads to fungal infections? Ie candidate, giardia etc

A

B cells. T Cells and Macrophage cerlls

59
Q

What are the 4 most common PID

A

HIV/AIDs
MBL def
Selective IgA def
CVID

60
Q

How long do the antibodies last when crossed from placenta in third trimester

A

4 months

61
Q

What is the second disease vaccinated to mums that has reduced all cause mortality in paeds

A

Influneza

62
Q

Half life of IgG

A

25 days

63
Q

What is Bruton’s syndrome? or X-linked agammaglobunaemia?

A

Pan hypo immunoglobulins with low B cell numbers.

64
Q

What is the pathophys behind Bruton’s syndrome

A

Bryton tyrosine kinase defect which prevent B cells signal transduction pathways –> B cell differentiation arrest at pre B cell stage

BTK gene.
Think no immunoglobulins BTS

65
Q

When and what does Bruton
s syndrome present with

A

Absent lymph node, sinopulmonary infections , poor vaccine response. Low B cell numbers.

66
Q

What is IgA deficiency?

A

Lack of IgA only- increased risk of mucosal infections

67
Q

What is a special consideration for transfusing blood to someone who has IgA def

A

use washed RBCs because there is compensatory elevated IgE

68
Q

What does IgA def present with

A

Increased infection esp associated with saliva, sweat, intestinal juices. No protection against carcinogens

69
Q

What is transient hypogam of infancy?

A

Low IgG, normal specific antibodies, normal lymphocyte number and function

Usually outgrow by 1st birthday

70
Q

When does transient hypogam of infancy present and how does it present

A

6 months and resolves by 4 years.
Recurrent sinopulmonary infections

71
Q

What is the most common B cell disorder

A

CVID

72
Q

Definition of CVID

A

Def in >2 Ig subtypes with recurrent sinopulmonary infections and impaired vaccine response in kids >2yo

73
Q

What are the common infections that kids with CVID present with

A

sinopulmonary infections caused by encapsulated bacteria (strep), gastro (giardia, campylobacter), VZV,

74
Q

4 chronic complications of CVID

A

bronchiectasis
chronic diarrhoea with malabs
GI obstruction
increased risk of malignancy (NHL, gastric cancers)

75
Q

What will happen to CD 19 in CVID

A

Low
Reduced class switched B cells. CD 19 on mature B cells

76
Q

What is Kostmann syndrome?

A

Severe persistent neutropenia, presents with bacterial infections, fever, perianal abscess, ginigivitis in first few months of life.
Monocytosis with eosinophilia

KOSTLY to have NO Neutrophila
Kostmann - no neutrophils

77
Q

What is the time frame for post-viral neutropenia?

A

In first two days of infection, persist for 3-8 days

78
Q

What is Scwanman-Diamond syndrome

A

Pancreatic insufficiency and bone marrow dysnf.
–> Neutropenia with anaemia and thrombocytopenia

79
Q

What is the immunological defect in DiGeorge? And what pharyngeal arches are affected in this syndrome?

A

Absent thymus= no T cells
Arches 3 and 4

CATCH 22- 3,,3 pharyngeal arches

80
Q

What is the defect in hyper IgM

A

CD40 ligand defect- T cells cant bind B cells so no class switching.

81
Q

Inheritance for hyper IgM

A

X linked.

82
Q

Common presentation for Hyper IgM

A

Recurrent pyogenic infections esp sinopulmonary, PJP, cryptosporidium enteritis .
NORMAL B and T cell numbers.

83
Q

What is the triad for Hyper IgE syndrome?

A

High levels of IgE (and eosinophilia), eczema, recurrent skin and pulmonary infections.

84
Q

What is the mutation in autosomal dominant HyperIgE syndrome

A

STAT 3
IgE causes STAT inflammation 3

85
Q

What syndrome is assocaited with cutaneous cold abscess and neonatal eczema

A

Hyper IgE

86
Q

What are the typical facies for Hyper IgE

A

Prominent forehead and chin, deepset eyes, bulbous nose, coarse facial features, facial asymmetry and high palate

87
Q

What is more common- AD Hyper IgE syndrome or AR?

A

AD more common.
AR develops more viral cutaneous infections

88
Q

What is Netherton syndrome- include presentation

A

severe eczema, atopy, recurrent infections and FTT. THIN HAIR AND EYEBROWS> High IgE and multiple food allergies.
THINK OF LEO

89
Q

What happens to primary teeth in hyper IgE syndrome

A

Retained primary teeth

90
Q

What is the mutation in chronic mucocutaneous candidiasis?

A

Gain of function STAT-1 mutation

91
Q

What is Omen syndrome

A

TYPE of SCID. But instead of no T cells, there are HIGH number of T cells that are not functional and also autoreactive==> eczema

92
Q

Mutation in Omens
Hint: What is a bad omen

A

RAG1/RAG2 - gene deficiency
Being a RAG is a bad OMEN

93
Q

What happens to eosinophils in Omen syndrome

A

UP

94
Q

What is maternofetal engraftment?

A

Variant of SCID.
Essentially lack of functional T cells–> maternal lymphocytes entering the circulation which then attacks baby

95
Q

What is always a lab finding in SCID

A

T-cell agenesis (and hence absent lymphoid tissue)

96
Q

What is the curative treatment for SCID

A

BMT

97
Q

What is the mutation in X-linked agammaglobunaemia (XLA)

A

deficiency in BTK gene. No tonsils.

98
Q

Apart from delayed cord separation, what are 2 other features of leukocyte adhesion disorder

A

Poor wound healing and gingivitis

99
Q

Triad for Wiskott-Aldrich Syndrome?

A

Small platelets, eczema and immuno def

100
Q

Mutation in what gene in Wiskitt-Aldrich?

A

WASP
Wiskott Aldrich syndrome protein

101
Q

What happens to the Igs in WAS?

A

Low IgM
High IgA and IgE

102
Q

What are some PRIMARY causes of HLH

A

Due to inherited genetic conditions ie PERFORIN deficiency (remember can’t stabilise alternate complement pathway)

Perforin DIFF to Properdin which has fast onset of infections

103
Q

What are some secondary causes of HLH

A

CMV, EBV, MAS and malignancy
Also X linked lymphoproliferative disease which increases susceptibility to EBV

104
Q

Treatment for hereditary angioedema?

A

Remember low C1 inhibitor
So give C1 inhibitor- barinet OR bradykinin inhibitor= Katibant

105
Q

What are the 5 bugs most commonly causing infeciton in CGD (chronic granulomatous disease)

A

Aspergillious, staph, burkholdaria, serratia, nocardia

106
Q

Problem in CGD

A

mutation in structural component of NADPH oxidase

107
Q

What is commonly deranged in bloods for HLH

A

RAISED Ferritin
RAISED LDH
Deranged LFTs
Raised triglycerides

108
Q

The risk of what is increased post EBV in patients with X linked lymphoproliferative disorder

A

lymphoma

109
Q

What are some protein losign states that can cause secondary/ancquired immunodef?

A

Nephrotic syndrome
severe burns
Lymphangiectasia

110
Q

What is the gold standard for diagnosis of food allergy

A

food challenge

111
Q

What is the most common cause of elevated IgE levels

A

Atopy/eczema
can be hyper IgE syndrome, helmonth infection, scabies, atopy etc

112
Q

What diametre of wheal in SPT is suggestive of allergy

A

> 3mm

113
Q

What is the usual time frame POST food ingestion within which FPIES occurs

A

2-4 hours post ingestion
Usually diary or soy based products

114
Q

Name 2-3 examples of a type 1 hypersensitivity reaction

A

Ig E mediated
So allergy, anaphylaxis, hayfever

115
Q

Name 2-3 examples of type II hypersensitivity reactions

A

This is cytotoxic or antigen-antibody mediated.
GOODPASTURES, glomerulonephritis, transfusion reaction, T2DM

116
Q

Name 2-3 examples of type III hypersensitivity reactions

A

This is immune complex mediated so lupus nephritis, serum sickness, SLE, post-strep GN
ALso small vessel vasculitis ie HSP and cryoglobulamic vasculitis= antiC1q

117
Q

What does serum sickness present with and what is one drug commonly associated with it

A

Fever, urticaria, arthrlagia, lymph node enlargement.
Common with Rituximab- low complements

118
Q

What are 3 types of type IV hypersensitivity reactions?

A

DRESS (drug induced), tuberculin skin test, SJS, contact dermatitis

119
Q

What is the time frame for AJEP vs DRESS vs SJS post commencement of a drug?

A

AJEP= 1-2 days (pustules with malaise)
SJS = <4 weeks
DRESS= 3-8 weeks post initiation

120
Q

What virus is DRESS assocaited with

A

HHV -6, CMV, EBV

121
Q

Skin involvement in SJS vs TEN

A

SJS is 1-10%
TEN= 10x worse - 30%

122
Q

Skin involvement in SJS vs TEN

A

SJS is 1-10%
TEN= 10x worse - 30%

123
Q

What cells would be involved in a patient with a rash ~2 weeks post Carbamexapine

A

Sounds like delayed hypersensitivity reaction- and time frame= SJS.
T cells

124
Q

What are the two TYPES of drug reactions?

A

Type A; dose dependant, common and predictable
Type B: HOST dependant - this includes allergy and psuedollergenic ie vancomycin, aspirin

125
Q

What do you measure to check if a reaction was a true allergy? (think in the immediate time frame)

A

Mast cell tryptase

126
Q

What is the order of potency between dex, hydrocort and pred

A

DPH
Department of Piss Heads

127
Q

What does Etanercept target

A

TNFa

128
Q

What pathway do sirolimus and everloimus act on? What is a common condition where these medications are used?

A

mTOR pathways
Used in Tuberous Sclerosis

129
Q

Apart from Pertussis, which vaccinations gives protection to baby when given in late antenatal period

A

Influena

130
Q

Which vaccine gives a fever?

A

MenB
THINK MEN FLU

131
Q

What type of vaccine is a Pneumovax

A

polysaccaride

132
Q

What is the order of immunogenecity in terms of live vs polysaccharide vs protein subunit

A

Live > protein > polysaccharide

133
Q

What is the most common type of vaccine and what cells does it trigger

A

Protein conjugated. Needs response from T cells for memory

134
Q

What is excessive molluscum suggestive of?

A

T cell def

135
Q

Which vaccine is given to test immune response?

A

Pneumovac 23

136
Q

Difference between organic acidemia and urea cycle defects disorders

A

In addition, organic acidemias typically present with an anion gap metabolic acidosis, while urea cycle defects can present with a respiratory alkalosis due to ammonia stimulation of the medulla.

Organic acids are ACIDIC
OTC= Urea cycle!!!! When mum is vegan, x linked recessive

137
Q

Syndrome with bell shaped chest and short limbs

A

Zelwegger

138
Q

What is the most important Ig in breast milk? how long until baby produces their own?

A

IgA in milk is principally in the form of secretory IgA, which serves as a first line of mucosal defense. Maternal supply of secretory IgA is important, as infant intestinal IgA production does not begin until several months of age; and even at one year of age serum IgA levels are only 20% of adult levels.

139
Q

Risk of anaphylaxis in patient with prev localised reaction

A

If he already had a systemic reaction/anaphylaxis, then the risk of a severe systemic reaction to a subsequent sting is more like 30%. But he has only had a previous local reaction, therefore his risk is 10%.

140
Q

What are the two conditions that can cause chronic mucocutaneous candidiasis

A

STAT 1 mutation
APECED

141
Q

What are the two autoimmune polyendocrinopathy complications in APECED

A

HypoPARAthyroidism
Adrenal insufficiency

142
Q

What is the difference between SCID and Omenn syndrome

A

Omenn will have high IgE and Eczema

143
Q

Mutation in X linked agammaglobunemia

A

Bruton tyrosine kinase
Think BTS there are no immunoglobulines

144
Q

What is the mutation in aut dominant hyper IgE

A

STAT 3

145
Q

What makes eosinphils in terms of cytokines

A

IL5
Think e is the fifth letter so IL-5

146
Q

What do mast cells release

A

IL-4
4 letters in mast,

RACP Written (18 decks)

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