Additional Respiratory Notes

Question 1

primary immunodeficiency disorder

Answer 1

Serious
Persistent
Unusual
Recurrent

Question 2

primary antibody disorders

Answer 2

e.g. sinusitis, ottitis media
selective IgA deficiency 
common variable immunodeficiencies 
specific antibody deficiency 
X-linked agammaglobulinaemia

Question 3

complement system disorders

Answer 3

e.g. laryngeal angiodema

hereditary angiodema

Question 4

PID manifestations

Answer 4

e.g. pneumonia 
primary antibody deficiency 
complement system disorders
congenital phagocytosis deficiency 
combined immunodeficiencies

Question 5

problems in the innate immune system

Answer 5

1. defects in neutrophil development
2. defects in neutrophil trans-endothelual migration
3. defects in neutrophil killing
4. defects in macrophage killing

Question 6

defects in neutrophil development

Answer 6

e.g. severe congenital neutropenia - Kostmann Syndrome
genetic (autosomal recessive)
severe lack of neutrophils
accumulation of precursor cells in the bone marrow

Question 7

defects in neutrophil trans-endothelual migration

Answer 7

e.g. leukocyte adhesion deficiency
genetic
failure of neutrophil adhesion and migration

Question 8

defects in neutrophil killing

Answer 8

e.g. chronic granulomatous disease
deep bacterial infections
granuloma formations

Question 9

defects in macrophage killing

Answer 9

mycobacteria inside immune cells - they hide

Question 10

treatment of phagocyte deficiencies

Answer 10

immunoglobin replacement therapy
aggressive management of infections
definitive therapy such as haematopoietic stem cell transplantation, gamma interferon therapy, gene therapy

Question 11

problems with the adaptive immune system

Answer 11

1. defects in leukocyte development (defect in haematopoietic stem cells or SCID)
2. defects in thromocyte development
3. defects in B cell development
4. defects in leukocyte effector functions
5. defects in T cell effector functions
6. defects in B cell efector functions
7. defects in class-switch recombinations

Question 12

defect in haematopoietic stem cells

Answer 12

e.g. reticular dysgenesis
failure to produce all lymphocytes
fatal unless stem cell transplant

Question 13

Sever combined immunodeficiency

Answer 13

failure of production of lymphocytes
B (high conc) and T (low conc) cells recrippled due to a genetic defect
persistently unwell from birth
presence of different lymphocyte subsets

Question 14

what is th most common form of SCID

Answer 14

X-linked 
mutation in the IL-2Ryc gene 
inability to respond to cytokines
decreased T cells and increased B cells 
poorly developed lymphoid tissues and thymus

Question 15

how is SCID treated

Answer 15

prophilactically

definitively with a transplant

Question 16

defects in thromocyte development

Answer 16

e.g. DiGeorge Syndrome
failure to produce CD4+ and CD8+ T cells

features - lower set folded ears, hypocalcaemia, complex congenital heart disease

management - correct metabolic and cardiac abnormalities, prophylactic antibiotics, Ig replacement, aggressive treatment

Question 17

defects in B cell development

Answer 17

e.g. X linked agammaglobulinaemia
failure to produce mature B cells
due to tyrosine kinase defect
presents with URTI and LRTI

Question 18

defects in T cell effector functions

Answer 18

cytokine production

Question 19

defects in class-switch recombinations

Answer 19

e.g. selective IgA deficiency

Question 20

features of T cell deficiencies

Answer 20

recurrent infection
opportunistic infections
maligancy at young age
autoimmune disease

Question 21

features of B cell deficiencies

Answer 21

recurrent infection
opportunistic infection
antibody-mediated autoimmune disease

Question 22

Type I hypersensitivity

Answer 22

Immediate e.g. allergy
IgE mediated
overstimulation of cells by IgE
degranulation response

Question 23

Type II hypersensitivity

Answer 23

Direct cell effects e.g. cell surface antigen (IgM or IgG)

Goodpastures syndrome - affects lungs and kidneys in smokers, drug takers and infections
treatment is corticosteriods, cyclophosphamide, plasmapheresis and stop smoking

Graves disease (kirit)

Question 24

Type III hypersensitivity

Answer 24

immune complex mediates e.g. antibody soluble antigens
result in tissue damage
SLE
acute hypersensitivity pneumonitis (chronic is not type III)

Question 25

Type IV hypersensitivity

Answer 25

T cell mediated
sarcoidosis
TB
chronic hypersensitivity pneumonitis

Question 26

what is IPEX syndrome

Answer 26

monogenetic disorder of immune dysregulation

X linked

Question 27

what can some HLA genes do

Answer 27

predispose someone to autoimmunity

Question 28

asthma is characterised by what lyphocyte activation

Answer 28

TH2 –> CD4+ express to TH0 cells that mature to the TH2 and activate B cells that mature to IgE secreting P cells

Question 29

COPD is characterised by what lymphocyte activation

Answer 29

TH1 and TH2

Question 30

what is there an imbalance of in COPD

Answer 30

proteases and anti-proteases (a1-antitrypsin)

Question 31

what does cigarette smoke stimulate in COPD

Answer 31

activates macrophages which release neutrophil chemotaxic factors
neutrophils then release proteases that break foen connective tissue in the lung parenchyma and stimulate mucus hypersecretion