Immunology/genetics/other dreaded topics Flashcards by joe Q

Type I hypersensitivity

Antigen reacts with IgE bound to mast cells
- Anaphylaxis
- Atopy

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Type II hypersenitivity

IgG or IgM binds to antigen on cell surface
- Autoimmune haemolytic anaemia
- Pernicious anaemia
- ITP
- Goodpasture’s
- Pemphigus / pemphigoid
- Rheumatic fever

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Type III hypersensitivity

Free antigen and antibody (IgG, IgA) combine
- SLE
- Post-strep glomerulonephritis
- Extrinsic allergic alveolitis

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Type IV - Delayed hypersensitivity

T cell mediated
- TB
- Graft versus host
- Allergic contact dermatitis
- MS
- Guillain Barre

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‘Type VI’

Antibodies that recognise and bind to the cell surface receptors.
- Myasthenia Gravis
- Grave’s disease

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Cardiac AP - rapid depolarisation

rapid influx of sodium

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Cardiac AP - early repolarisation

efflux of potassium

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Cardiac AP - plateau

slow influx of calcium

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Cardiac AP - final repolarisation

efflux of potassium

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Cardiac AP - restoration of ionic concentrations

by Na/K ATPase
slow influx of sodium until threshold for new AP reached

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Plasma cells

Mature B-lyphocytes
produce IgE to stimulate eosinophils

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Turner syndrome karyotype

45 X

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Turner syndrome phenotype

webbed neck
shield chest, wide nipples
low hairline
renal abnormalities
Aortic dissection
Coarctation
Bicuspid aortic valve
autoimmune diseases
Gastrointestinal disorders/predispositions

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Triple X karyotype

47 XXX

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Triple X phenotype

tall
slightly redced intelligence
speech delayed
increased incidence of premature ovarian failure

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Klinefelter karyotype

47 XXY

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Klinefelter phenotype

hypergonadotrophic-hypogonadism
small testes
poor growth of facial and body hair
mild developmental delay, behavioural problems
female distribution of fat and hair

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Down syndrome karyotype

Trisomy 21

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Down syndrome phenotype

single palmar crease
brachycephaly
upslanting palpebral fissures
brushfield spots
hypotonia
AVSDs
ALL/AML
Hypothyroid

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Edwards syndrome karyotype

trisomy 18

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Edwards syndrome phenotype

rockerbottom feet
malformations
profound learning disability
survival beyond infancy rare

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Patau syndrome karyotype

Trisomy 13

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Patau phenotype

CNS abnormalities
microphthalmia
renal abnormalities
congenital heart disease
survival beyond infancy rare

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DiGeorge syndrome

microdeletion 22q11

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DiGeorge syndrome phenotype

parathyroid hypoplasia thymus hypoplasia congenital cardiac malformation cleft palate learning disability

Williams syndrome

microdeltion elastin gene chromosome 7

Williams syndrome phenotype

supravalvular aortic stenosis hypercalcaemia learning disabliity with chatty social nature

Autosomal recessive

mutation in both alleles Where both parents are carriers: 50% chance of child being a carrier 25% chance of child being affected

Autosomal dominant

Mutation of one allele 50% chance of affected parent having an affected child

Autosomal recessive conditions

CF Fanconi's anaemia Haemochromatosis Sickle cell anaemia Wilson's disease Most metabolic disorders are autosomal recessive but there are exceptions

Autosomal dominant conditions

Achondroplasia Ehlers-Danlos Gilbert Huntingtons Marfans Neurofibromatosis 1 & 2 Tuberous sclerosis Von Willebrand

X-linked genetic conditions

most commonly affect males as only one copy of X No male to male transmission obv Daughters of affected male are obligate carriers obv

X-linked recessive conditions

Becker MD Duchenne MD Fabry G6PD deficiency Haemophilia A and B Lesch-Nyan Red-green colour blindness

X-linked dominant

all offspring of affected female 50% chance of being affected

X-linked dominant conditions

Vitamin D resistant rickets Rett syndrome

Main component of surfactant

DPPC

Interleukin 1 mainly released by...

Macrophages and monocytes

Rough endoplasmic reticulum

- translation, folding of proteins - manufacture of lysosomal enzymes - N-linked glycolysation - extesnive in pancreatic cells, goblet cells, plasma cells

Smooth endoplasmic reticulum

- Steroid and lipid synthesis - extensive in adrenal cortex, hepatocytes, testes, ovaries

Golgi apparatus

- Modifies, sorts and packages molecules for secretion - Add monnose-6-phosphate to proteins which are to be transported to lysosome

Mitochondrion

aerobic respitration

Nucleus

DNA maintenance RNA transcription RNA splicing

Nucleolus

ribosome production

Lysosome

breakdown of large molecules

Ribosome

translation of RNA into proteins

Peroxisome

catabolism of long chain fatty acids formation of hydrogen peroxide

Proteasome

degrades proteins that have been tagged with ubiquitin

Oncogene - ABL

CML

Oncogene - c-MYC

Burkitts lymphoma

Oncogene - nMYC

Neuroblastoma

Oncogene - BCL-2

Follicular lymphoma

Oncogene - RET

MEN type II and III

Oncogene - RAS

Pancreatic cancer

Oncogene - HER2

Breast and ovarian cancer

Tumour suppressor gene - p53

Li-Fraumeni syndrome (early onset breast cancer, sarcoma, leukaemia) Most commonly mutated in breast, colon and lung cancer

Tumour suppressor gene - APC

Colorectal cancer

Tumour suppressor gene - BRCA 1 and 2

Breast and ovarian cancer (prostate and breast in men)

Tumour suppressor gene - NF1

Neurofibromatosis

Tumour suppressor gene - Rb

Retinoblastoma

Tumour suppressor gene - WT1

Wilms tumour

Tumour suppressor gene - multiple tumour suppressor gene

Melanoma

Hyperacute organ rejection

B cells Type II hypersensitivity

Acute graft failure (<6 mnths)

cytotoxic T cells

Chronic graft failure (>6 months)

Antibody and cell mediated

Mitochondrial diseases

Pellagra

Niacin (B3) deficiency Diarrhoea Dermatitis Dementia

Homocystinuria

Autosomal recessive tall, long fingered, learning difficulties, DVT, downward lens dislocation

IgD

Mechanism unknown Activates B cells

IgA

Most commonly produced Low serum levels Found in bodily secretions

IgE

Made by plasma cells Mediator in type I hypersensitivity Activates Eosinophils

IgG

Most abundant in serum Acts strongly against viral and bacterial infections Activates complement cascade Involved in type ii and iii hypersensitivity

IgM

Initial immunoglobulin released in response to infection Responsible for agglutination in ABO mismatch

Cytokine implicated in sepsis/septic shock

IL-1 Sepsis -> IL-1 release -> vasodilation -> hypotension and shock

Cytokine implicated in fever relating to sepsis

IL-6