Primary Immunodeficiency

Question 1

is primary immunodeficiency common or rare?

Answer 1

rare

Question 2

what are the two types of adaptive immune disorder for primary immunodeficiency ?

Answer 2

antibody deficiencies

cellular immunodeficiency

Question 3

what is a sign for antibodies deficiencies ?

Answer 3

recurrent RTIs

Question 4

what is the cause of cellular immunodeficiency ?

Answer 4

impaired T cell function

Question 5

what are three causes of innate immune disorders?

Answer 5

defects in phagocyte function
complement deficiency
absence of pathogen recognition receptors

Question 6

what is the cause of hereditary angioedema ?

Answer 6

C1- inhibitor deficiency

Question 7

is an allergen involved in hereditary angioedema ?

Answer 7

no

Question 8

what are some symptoms of hereditary angioedema ?

Answer 8

inflammation
local pain
non pitting tissue oedema

Question 9

what is the management of hereditary angioedema?

Answer 9

acute management - breathing (intubation)
C1 inhibitor infusion
fresh frozen plasma

Question 10

state a genetic syndrome that includes immunodeficiency ?

Answer 10

22q11 deletion syndrome

Question 11

what causes immunodeficiency in 22q11 deletion syndrome?

Answer 11

thymus isn’t formed properly

Question 12

what autoimmune phenomena can occur with 22q11 deletion syndrome?

Answer 12

anaemia/thrombocytopenia
juvenile chronic arthritis
raynauld
thyroid

Question 13

what is the management for 22q11 syndrome?

Answer 13

immunoglobulin substitution 
gene therapy 
stem cell transplant 
thymus transplant 
genetic counselling

Question 14

state some causes of secondary immunodeficiency ?

Answer 14

environmental - malnutrition, trauma, burns
disease - infection, diabetes, renal failure, asplenia, malignancy
iatrogenic - surgery, splenectomy, medication

Question 15

state some phagocyte defects which can cause innate immune disorders?

Answer 15

absence of neutrophils
leukocyte adhesion defect
loss of PRR (pathogen recognition receptor)
intracellular killing

Question 16

what makes immunocompromised infection different from normal infection?

Answer 16

severity 
persistence 
unusual organism 
recurrent 
runs in families

Question 17

what cells are involved in adaptive immunity?

Answer 17

B and T cells

Question 18

are complement molecules in adaptive or innate immunity?

Answer 18

innate

Question 19

what are the four main components of immune defence mechanism?

Answer 19

B cells and antibodies
T cells
phagocytes
complement system

Question 20

what type of genetic defects cause primary immunodeficiency?

Answer 20

single genetic defects

Question 21

what is the most common primary immunodeficiency ?

Answer 21

predominately antibody disorders

Question 22

what cell is defective in antibodies deficiencies?

Answer 22

B cells

Question 23

what molecule does neutrophils use to attach to endothelium to move out of the blood stream?

Answer 23

CD11/CD18

Question 24

state some clinical presentation of 22q11 syndrome?

Answer 24

short forehead
hooded eyelids
protuberant ears
bulbous nasal tip