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Year 5 MEDICINE Pathology > Immunology > Flashcards

Immunology Flashcards

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1
Q

monogenic auto-inflammatory diseases?

and autoimmune diseases?
Mechanisms?

A

autoinflammatory
1. Familial mediterranean fever(IL 1). Treat with colchicine. Long term risk of AA amyloidosis -> deposits in Kidney -> nephrotic syndrome
2. TRAPs

autoimmune -
1. ALPS = autoimmune lymphoproliferative syndrome. FAS mutation!! Lymphocytes don’t undergo apoptosis = high lymphocyte numbers!! LYMPHOMA, CYTOPENIA

2. IPEX = mutation in foxP3. 3DS diabetes, dermatitis and diarrhoea. symptoms. Failure of treg cells to bring about peripheral tolerance.

3. Autoimmune polyendocrine syndrome type 1. APSI. Mutation in AIRE!! Failure of central tolerance. Many autoimmune conditions. Also known as APACED.
Without Aire your body will CHAR = chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, recurrent Candida infections) hypothyroidism

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2
Q

Familial mediterreanean fever

pathology?


presentation

complications


investigation

management

A

Autosomal recessive condition
Mutation in MEFV gene
MEFV gene encodes pyrin-marenostrin
Pyrin-marenostrin expressed mainly in neutrophils
Failure to regulate cryopyrin driven activation of neutrophils

Periodic fevers lasting 48-96 hours associated with:
Abdominal pain due to peritonitis
Chest pain due to pleurisy and pericarditis
Arthritis
Rash

AA amyloidosis -> nephrotic syndrome


high CRP, high serum AA
genetic test

colchicine

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3
Q

Immune dysregulation, polyendocrinopathy, enteropathy, X- linked syndromeIPEX pathology? presentation?

A

Mutations in Foxp3 (Forkhead box p3) which is required for development of CD25+Treg cells

Failure to negatively regulate T cell responses
Autoreactive B cells
limited repertoire of autoreactive B cells


Autoimmune diseases
Diabetes Mellitus
Hypothyroidism

Enteropathy
Eczem

‘Diarrhoea, diabetes and dermatitis’

genetic test

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4
Q

Auto-immune lymphoproliferative syndromeALPS pathology? presentation?

A

Mutations within FAS pathway
Eg mutations in TNFRSF6 which encodes FAS
Disease is heterogeneous depending on the mutation

Defect in apoptosis of lymphocytes
Failure of tolerance
Failure of lymphocyte ‘homeostasis’

High lymphocyte numbers with large spleen and lymph nodes

Auto-immune disease
commonly auto-immune cytopenias

Lymphoma

genetic test - look for mutations in FAS pathway

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5
Q

polygenic auto-inflammatory disease examples


mutations identified in chrons?

A

chrons - IBD1, NOD2

ulcerative colitis

osteoarthritis

giant cell arthritis

Takayasus arteritis

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6
Q

Polygenic autoimmune disease examples

A

Rheumatoid arthritis Systemic lupus erythematosus
Myaesthenia Gravis Primary biliary cholangitis
Pernicious anaemia
Addison disease

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7
Q

examples of mixed pattern diseases

A

Axial spondyloarthritis
Psoriatic arthritis
Behcet’s syndrome

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8
Q

Axial spondyloarthritis
presentation?
gene associations?
treatment?

A

pain in sacroiliac joints, in entheses
Low back pain and stiffness
Enthesitis
Large joint arthritis

associated with HLAB27 mostly
but also IL23R, IL32

Treatment
Non-steroidal anti-inflammatory drugs
Immunosuppression
Anti-TNF alpha
Anti-IL17

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9
Q

Hypersensitivity types/groups

A

Type I: Anaphylactic hypersensitivity
- Immediate hypersensitivity which is IgE mediated – rarely self antigen

Type II: Cytotoxic hypersensitivity
- Antibody reacts with cellular antigen

Type III: Immune complex hypersensitivity
- Antibody reacts with soluble antigen to form an immune complex

Type IV: Delayed type hypersensitivity
- T-cell mediated response

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10
Q

conditions with Type 2 hypersensitivity

A

goodpastures disease
pemphigus vulgaris
graves disease
myasthenia gravis

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11
Q

conditions with type 3 hypersensitivity

A

SLE

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12
Q

conditions with type 4 hypersensitivity

A

insulin dependent diabetes mellitus

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13
Q

antibodies seen in hashimotos thyroiditis?

A

anti thyroid peroxidase
anti thyroglobulin

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14
Q

Investigation of Connective Tissue DiseaseSLE, Sjogrens, Systemic sclerosis, Idiopathic inflammatory myopathy


they are all ANA+ve

A

ENA+ve:
1. Ro, La, Sm, RNP - SLE, sjogrens
2. SCL70 - diffuse cutaneous systemic sclerosis
3. Centromere - crest

cytoplasmic:
t-RNA synthetase (Jo1) - myositis

dsDNA+ve:
SLE

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15
Q

state the 3 small vessel vasculitis that are associated with ANCA

A

1. microscopic polyangitis - P-ANCA
2. granulomatosis with polyangitis - C-ANCA
3. eosinophilic granulomatosis with polyangitis - P-ANCA

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16
Q

p-anca vs c-anca

A

p anca = antimyloperoxidase

c anca = antiproteinase 3

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17
Q

TH2 immune response

A

IL4, IL5, IL13

mast cells cross link IgE -> release of histamines and leukotrienes -> worm and allergen expulsion

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18
Q

increased secretion of pro-inflammatory innate cytokines by PBMC following exposure to environmental microbial product may protect against development of asthma

A

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19
Q

most appropriate initial test for food allergy with urticaria and angioedema?

A

skin prick test

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20
Q

anaphylaxis treatment

A

adrenaline

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21
Q

60 year old with hypotension and rash during surgery, what test will you use to diagnose anaphylaxis?

A

serial mast cell tryptase -> quick turnaround

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22
Q

two types of immune response to infection

A

cell death or extensive damage -> microbial PAMP and host DAMP -> type 1 and 3 immune responses

cell stress or tissue pertubation -> host DAMP >>> microbial PAMP -> type 2 immune response

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23
Q

type 1 immune response is directed against? how does it work?

A

Intracellular pathogens!!!
CD4 TH1 cell activation -> secretion of interferon gamma which activates macrophages and CD8 T cells and CD4 also interacts with b cell using IL21 and interferon gamma to secrete antibodies, IgG>IgA

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24
Q

type 3 immune response is directed against? how does it work?

A

Extracellular bacteria and fungi!!!!!!
CD4 TH17 -> IL17 -> neutrophil
CD4 -> IL22 -> maintain epithelial cell integrity

igA>IgG

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25
type 2 immune response is directed against? how does it work?
Extracellular parasites!!!!! CD4 TH2 -> IL 4, 5 AND 13 -> mast cells, basophils, eosinophils b cell -> IgE
26
Features of marginal zone b cells?
T cell independent protect against encapsulated organisms found in spleen
27
features of extrafollicular b cells
rapid response respond to protein t cell dependent and independent memory short lived plasma cells
28
features of germinal centre b cells
t cell dependent respond to protein memory long lived plasma cells
29
structure of immuniglobulins and function of each part.
2 fab units 1 fc unit -> isotype class switching, ig subclasses, modification of hinge region, glycosylation Fcr binding causes complement release, phagocytosis etc
30
what is the most common cause of inborn errors of immunity?
antibody deficiency syndromes thus, b cells must important cellular component
31
causes of genetic succeptibility to Tuberculosis
1. one cause is Variant in TYK2 -> signalling protein involved in Type 1 immune response impairs IL23 80% chance of TB disease if homozygous 2. mutation in IL12
32
causes of genetic succeptibility to covid19?
defects in type 1 interferon some patients have antibodies that inhibit type 1 interferon
33
what conditions are associated with inborn errors of immunity?
inborn errors of metabolism and autoimmune dieases are often linked, especially autoimmune diseases seen in children -> cytopenias autoinflammatory diseases eg familial mediterranean fever allergic disease eg eczema, eosinophilia and IgE may be a sign of inborn errors of immunity, eg sever atopy + susceptibility to infection early onset viral cancers may be a sign of inborn errors of immunity eg EBV succeptibility in combined immune deficiency syndromes in history ask about immune deficiency and consanguity
34
most common inborn error of immunity?
selective IgA deficiency
35
first line blood tests for inborn errors of immunity?
FISH Full blood count -> look at neutrophil and lymphocyte count Serum Immunoglobulins Serum complement Hiv test others: measure concentration of vaccine antibodies - failure to respond to vaccination is a sign
36
name inborn errors involving the innate immune system
neutrophil: 1. neutropenia syndromes: - chronic benign neutropenia (asymptomatic, no treatment needed) - severe congenital neutropenias 2. defects in neutrophil function: - leukocyte adhesion deficiency syndrome (defect in binding to endothelium) - Chronic granulomatous disease (defect in generation of reactive oxygen speicies) complement: 1. C1-C4-2 - SLE in C1Q deficiency 90% of time - succeptibility to encapsulated bacteria infections -> hib, strep pneumoniae 2. Alternative pathway - neisseria meningitis (properidin) 3. C3 - C3 glomerulopathy 4, Terminal complement pathway deficiency - neisseria meningitis - disseminated gonoccocal infection 5. MBL deficiency up to 30%. of population, not significant 6. C1 INHIBITOR deficiency - recurrent episodes of angioedema of skin, abdomen, larynx - Low C4, normal C3 - treat with C1 inhibitor NOT adrenaline vaccination and prohylactic antibiotics to people with complement deficiencies
37
Leukocyte adhesion deficiency pathology? clinical features? management?
deficient CD18 expression on neutrophils, so not enough to bind to ICAM1. neutrophils cant exit blood stream to tissues - delayed separation of umbilical cord - very high neutrophil counts - absence of pus formation stem cell transplant
38
Chronic granulomatous disease pathology? clinical features? management?
NADPH oxidase deficiency. oxygen free radicals cant be generated which combine with MPO to form HCl/bleach which kills pathogens bacterial, fungal infections, increased risk of TB. skin lymph nodes, liver, bone, chest. gastrointestinal and genitourinary inflammatory disease cotrimoxazole and itroconazole prophylaxis ifn gamma, stem cell and gene therapy
39
name inborn errors involving lymphoid precursors
T and B cell progenitors: 1. SCID T cell progenitors: 1. Di George
40
SCID pathology? clinical features? management? which organism is NOT associated with SCID?
Defects in generation of lymphoid precursors in bone marrow. absent or dysfunctional t cells, affecting humoral response multiple recurrent infections and opportunistic infections usually unwell by 3 months of age low lymphocyte count = diagnostic low cd3 low serum immuniglobulins stem cell transplantation influenza A not associated
41
22q11.2 deletion syndrome pathology? clinical features? management?
defect in t cell maturation/selection in thymus most common chromosomal deletion syndrome failure of pharyngeal arch to develop; - craniofacial structures - thymus - parathyroid glands, aortic arch - cardiac outflow tract classic triad of immune deficiency, hypoparathyroidism, congenital heart disease. but can present differently 5% reduced tcell numbers which resolve
42
state antibody deficiency syndromes
selective IgA deficiency CVID XLA
43
Selective IgA deficiency pathology? clinical features? management?
most common - allergic diseases - Sinopulmonary and enteric diseases - Gi cancers - autoimmune disease
44
CVID pathology? clinical features? diagnosis? management
adult onset -> median age 35 most common antibody deficiency in adults - recurrent sinopulmonary infection with encapsulated bacteria. otitis media and hib conjuctivitis - repeated chest and sinus infections -> bronchiectasis, recurrent sinusitis - enteric, skin infections - autoimmune disease - granulomatous disease!!! - not just chronic granulomatous disease - lymphoproliferative disease diagnosis? 1. over 4 years 2. reduction in IgG and IgA or M 3. poor vaccine response 4. exclude other causes of antibody deficiency - b cell cancers, drugs lung disease treatment IgG replacement
45
XLApathology? clinical features? management?
mutation in BTK - Bruton Tyrosine Kinase succeptibility to disseminated enteroviral infection if not on IgG replacement neutropenia can be a feature chronic/acute lung disease = most common cause of death
46
describe 4 ways to boost the immune response
1. vaccination 2. replacement of missing components - BMT, antibody/immunoglobulin replacement for primary antibody deficiencies or secondary eg in hematological malignancies or after BMT 3. blocking immune checkpoints 4. cytokine therapy - eg interferon alpha in hepatitis, interleukin 2 in renal cell cancer, interferon gamma in chronic granulomatous disease
47
name some live attenuated vaccines *learn as you cant give to immunosuppressed
MMR - VBOY MMR Varicella BCG!!! Oral polio (Sabin), Oral typhoid Yellow fever Influenza (Fluenz tetra for children 2-17 years)
48
name some inactivated vaccines
Influenza (inactivated quadrivalent), Cholera, Bubonic plague, Polio (Salk- injected)!!!, Hepatitis A, Pertussis, Rabies
49
name some component/subunit vaccines
Hepatitis B (HbS antigen), HPV (capsid), Influenza (recombinant quadrivalent - less commonly used)
50
name a condition that immunoglobulin replacement therapy can be used in
x linked hyper IgM
51
Nivolumab and Pembroluzimab mechanism? indication?
antibodies that bind to PD1. blocks immune checkpoint, cause T cell activation indicated in: advanced melanoma metastatic renal cell cancer
52
ipilimumab mechanism? indication?
antibody binding to CTLA4 blocks immune checkpoint, cause T cell activation indicated in advanced melanoma
53
Describe ways of suppressing immune response
1. Steroids 2. Anti-proliferative agents (inhibit DNA synthesis)- eg cyclophosphamide, mycophenolate, azathioprine 3. Plasmapheresis - removal of pathogenic antibodies 4. Inhibitors of cell signalling - MTOR, JAK, PDE, and Calcineurin inhibitors 5. Agents directed at cell surface antigens - eg rituximab/anti-cd20 6. Agents directed at cytokines and their receptors - eg anti tnf alpha
54
side effects of anti proliferative agents?
Bone marrow suppression Infection Malignancy Teratogenic
55
Cyclophosphamide key side effects?
Bone marrow suppression Hair loss Sterility (male>>female) Haemorrhagic cystitis Malignancy - Bladder, Haematological, Non-melanoma skin cancer Infection - Pneumocystis jiroveci
56
Azathioprine key side effects?
bone marrow suppression hepatotoxicity infection
57
Mcophenalate motil key side effects?
1. Bone marrow suppression Infection 2. Infection: - Particular risk of herpes virus reactivation - Progressive multifocal leukoencephalopathy (JC virus)
58
indications for plasmapheresis?
Severe antibody-mediated disease: - Goodpasture syndrome - Anti-glomerular basement membrane antibodies - Severe acute myasthenia gravis- Anti-acetyl choline receptor antibodies - Antibody mediated transplant rejection/ABO incompatible
59
name different drugs that inhibit cell signalling and use
1. Calcineurin inhibitors - ciclosporin, tacrolimus - used in transplantation, sle, psoriatic arthritis 2.MTOR inhibitors - Rapamycin, sirolimus - transplantation 3. PDE 4 inhibitors - ampremilast used in psoriasis and psoriatic arthritis 4. JAK inhibitors
60
name agents directed at cell surface antigens
directed at T cells: - Rabbit anti-thymocyte globulin - used in allograft rejection - Basiliximab – anti-CD25 - allograft rejection, transplants - Abatacept – CTLA4-Ig - rheumatoid arthritis directed at B cells: Rituximab – anti-CD20 - lymphoma, rheumatoid arthritis, SLE Targeting lymphocyte migration: - Vedolizumab – anti-a4b7 integrin - used in IBD
61
name agents targeting cytokines and their receptors? antibodies in asthma/eczema?
anti-TNF alpha antibodies - infliximab, adalimumab, certolizumab, golimumab TNF alpha antagonist - etanercept anti-IL6 antibodies - tocolizumab,!! sarilumab!! - IL6 targeting important for rheumatoid arthritis!!! antibody against IL23 - guselkumab or antibodies against IL17 secukinumab- psoriasis, psoriatic arthritis anti-rank ligand antibody eg denosumab - osteoporosis IL 4, 5, and 13 in asthma - target them
62
side effects of immunosuprression with drugs?
infection malignancy autoimmunity
63
IL1 drives what conditions? IL6 drives what conditions? IL 17/23 pathway drives what conditions? IL 4/5/13 drive what conditions? RANK pathway drives what condition? TNF alpha can be targeted for what diseases? *not really expected to know drug names for exam
IL1 = gout, familial mediterranean fever, adult onset stills disease IL6 - rheumatoid arthritis! IL17/23 pathway - axial spondyloarthritis, psoriasis! , psoriatic arthritis.(essentially drive spondylarthritis group "PAIR") IBD is IL23 only. (note, Not effective for RA) IL 4/5/13 - asthma, eczema, RANK L = osteoporosis TNF Alpha = rheumatoid arthritis,! psoriasis!, psoriatic arthritis, spondyloarthritis, IBD, familial mediterannean fever
64
antibody mediated transplant rejection options
eculizimab velclade - proteosome inhibitor rituximab intravenous Ig plasma echange
65
1,1,0 Mismatch means what?
1A, 1B, 0 DR
66
which cells mediate damage in effector phase of t cell organ transplant?
T cells and monocytes/macrorophages
67
what drug is administered after acute t cell mediated organ rejection
methylprednisolone!!! high dose, 3 days in a row
68
main cell type injured in effector phase of antibody mediated rejection?
endothelial cells
69
hla match rate in parent to child
3/6
70

Year 5 MEDICINE Pathology (11 decks)

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