Primary immunodeficiency

Question 1

give 3 examples of PID

Answer 1

Common Variable Immune Deficiency (CVID)
C1 Esterase Inhibitor Deficiency / Hereditary Angioedema (HAE) 
X-Linked Agammaglobulinaemia (XLA)
Severe Combined Immune deficiency (SCID)
Chronic Granulomatous Disease (CGD)

Question 2

Hallmarks of PID

Answer 2

infections that are usually Recurrent
 Serious
 Unusually persistent
 Resistant to treatment
 Unusual organisms
 Unexpected spread

Question 3

what component of the immune system would be defective if the recurrent infections were: pneumocystitis or severe fungal/viral

Answer 3

T cell defect

Question 4

what component of the immune system would be defective if the recurrent infections were: encapsulated bacteria, strep pneumoniae, haemophilis influenzae

Answer 4

B cell defect

complement

Question 5

what component of the immune system would be defective if the recurrent infections were: staph, serratia, klebsiella, aspergillus

Answer 5

Neutrophil

Question 6

what component of the immune system would be defective if the recurrent infections were: neisserial

Answer 6

complement

Question 7

what are people with PID more susceptible to (4)

Answer 7

infection
AI diseases
malignancies e.g. lymphoid
granulomatous disease

Question 8

what are the 10 warning signs of PID

Answer 8

8 or more ear infections within a year

2 or more serious sinus infections within 1 year

2 or more more months on abx with little or no effect

2 or more pneumonias in a year

failure to thrive

recurrent, deep skin or organ abscesses

persistent thrush in mouth or elsewhere on skin after age 1

need for IV abx to clear infections

2 or more deep seated infections

FHx

Question 9

Ix for PID

Answer 9

FBC
WCC
Serum immunoglobulins
Complement C3 and C4

Question 10

pathophysiology of c1 esterase inhibitor deficiency aka hereditary angioedema

Answer 10

Recurrent, episodic, non-pitting, circumscribed edema without urticaria
Unpredictable acute attacks at any body location
Diagnosis is essential to avoid mortality due to laryngeal edema

C1 esterase inhibitor: inhibits the classical complement pathway- get activation of complement, seen as a low C4 in laboratory tests.