Immunology 2 - primary immunodeficiencies

Question 1

4 main components of immune defence

Answer 1

B cell and antibodies - humoral specific
T cell - cellular, specific
complement - innate
phagocytes - innate

Question 2

What causes PID?

Answer 2

single gene defects

Question 3

PID in Europe

Answer 3

antibody disorders
T cell disorder
phagocyte disorder
complement deficiencies

Question 4

What are secondary immunodeficiencies?

Answer 4

acquired diseases with all components of immune system present and functioning

Question 5

PID or SID more common?

Answer 5

secondary

Question 6

Secondary immunodeficiencies examples

Answer 6

burns, trauma, malnutrition
infection, diabetes, renal failure, asplenia, malignancy
surgery, splenectomy,drugs

Question 7

Antibody deficiencies

Answer 7

one or more subclass of antibodies eg IgG, IgM
absent mature B cells

Question 8

cellular immunodeficiencies

Answer 8

impaired T cell function or absence of normal T cells

Question 9

Innate immune disorders

Answer 9

defects in phagocyte function
complement deficiencies
absence or polymorphisms of PRR

Question 10

features of antibody deficiencies

Answer 10

recurrent bacterial infection of resp tract

H influenzae and strep pneumoniae

Question 11

features of cellular immunodeficiencies

Answer 11

CMV,PJP

Question 12

features of defects in phagocyte function

Answer 12

staph aureus - sepsis, skin lesions, abscesses

aspergillus - lungs, bones

Question 13

complement deficiencies features

Answer 13

N meningitidis

Question 14

Recognising PID

Answer 14

severe? hospital/IV 
persistent 
unusual - organism 
recurrent 
FH

Question 15

Warning signs for PID

Answer 15

ear infection, sinus infection, viral infections, fungal infection recurring 
diarrhoea chronic 
pneumonia 
IV antibiotics 
FH

Question 16

other presenting symptoms apart from infection for PID

Answer 16

auto-inflammation
auto-immune
malignancies

Question 17

Neutrophil defects

Answer 17

congenital neutropenia
leucocyte adhesion defect
recognition and phagocytosis
intracellular killing

Question 18

neutrophil defect - adhesion

Answer 18

missing CD11/18

Question 19

What parts of immune system are capable of opsonisation?

Answer 19

complement

antibodies

Question 20

complement - chemotaxis

Answer 20

C3a,C5a

Question 21

complement - opsonisation

Answer 21

C3b,C4b

Question 22

lysis of micro-organism without cell wall - complement

Answer 22

c5b-9

Question 23

Hereditary angioedema

Answer 23

C1 inhibitor deficiency

autosomal dominant

Question 24

Hereditary angioedema features

Answer 24

recurrent episodes of non pitting, non pruritic, non erythematous, painless swellings
subcut tissues, intestines, oropharynx

Question 25

Hereditary angioedema acute emergency

Answer 25

pharyngeal/laryngeal obstruction

acute abdo pain

Question 26

Treating Hereditary angioedema

Answer 26

C1 inhibitor infusion OR

FFP

Question 27

Adaptive Cd4 deficiency - fungal infections

Answer 27

Pneumocystitis pneumonia

cryptococcal meningitis

Question 28

Mutation associated with absent mature B cells

Answer 28

BTK

Question 29

22q11 deletion syndrome epidemiology

Answer 29

de novo mutations

1 in 4000

Question 30

22q11 deletion syndrome clinical presentation

Answer 30

congenital cardiac anomalies
palatal defects
learning diabilities
immunodeficiency - Thymus a/hypo plasia

Question 31

22q11 deletion syndrome facial features

Answer 31

short forehead 
protuberant ears 
bulbous nasal tip 
malar flatness 
hooded eyelids

Question 32

22q11 deletion syndrome immune system disorders

Answer 32

recurrent RTI’s in infancy

autoimmune pheonomena

Question 33

types of 22q11 deletion syndrome

Answer 33

complete Digeorge anomaly = diGeorge +thymus aplasia
atypical complete Digeorge anomaly
typical complete DiGeorge anomaly

Question 34

Manging PID

Answer 34

symptomatic - prevent infection
causative - gene therapy, Ig substitution, thymus transplant, stem cell transplant
genetic counselling and prenatal diagnosis

Question 35

One causative treatment for DiGeorge

Answer 35

thymus transplant