Lecture 1 Primary Immunodeficiency

Question 1

Pluripotent stem cells develop into what 3 types of cells

Answer 1

Premyloid
Lymphocyte committed stem cells
Promonocyte

Question 2

What is primary immunodeficiency

Answer 2

Genetic, congenital disorder where part of the immune system is either missing or functioning abnormally

Question 3

T-cell defects lead to what type of infections (8)

Answer 3

Low-virulence mycobacteria
Cytomegalovirus
Kaposi sarcome
Lymphoma
Pneumocystitis 
TB
Herpes and Herpes zoster
Candida

Question 4

Phagocyte defects lead to what type of infections (4)

Answer 4

Candida
Staphylococci
Gram-negative bacteria
Invasive fungi

Question 5

Complement defects lead to what type of infections (2)

Answer 5

Neisseria meningitidis

Encapsulated bacteria

Question 6

B-cell defects lead to what type of infection

Answer 6

Encapsulated bacteria

Question 7

Repeated infection with encapsulated bacteria is a sign of what?

Answer 7

Defective antibody production

Question 8

Antibody deficiency (IgG and IgA) leads to___

Answer 8

Recurrent respiratory infections pneumococcus or Haemophilus spp.

Question 9

Recurrent Candida infection is suggestive of defects in the ___ pathway

Answer 9

TH17

Question 10

What are the 3 main causes of primary immunodeficiency

Answer 10

Mutations
Polymorphism
Polygenic disorder

Question 11

What is a cure for Severe Combined Immunodeficiency (SCID) that needs to be done quick to be successful

Answer 11

Stem cell transplant

Question 12

What are alleles

Answer 12

Different forms of the same gene occurring at a single locus

Question 13

Define polymorphic

Answer 13

Involves one or two or more variants of a particular DNA sequence

Question 14

What type of alleles are polymorphic

Answer 14

HLA alleles

Question 15

Polymorphisms in what2 things affect the risk of infections

Answer 15

MBL and complement

Question 16

Consanguinity would suggest what type of inheritance

Answer 16

Autosomal recessive

Question 17

Is Autosomal Recessive SCID
A) Monogenic
B)Polygenic
C)Autoantibodies

Answer 17

Monogenic

Question 18

What is the clinical presentation of severe combined imunodeficiency

Answer 18

Develop infections i first weeks of life
Unusual or recurrent infection
Diarrhoea
Unusual rashes

Question 19

What would the lymphocyte count look like in someone with severe combined immunodeficiency

Answer 19

Very low total

Question 20

What is the clinical presentation of antibody deficiency

Answer 20

Presents later in life

Chronic or recurrent bacterial respiratory infections

Question 21

What should be measured when trying to diagnose antibody deficiency

Answer 21

IgG, IgA and IgM levels

Antibodies againist pneumococcus and haemophilus spp.

Question 22

How is primary immunodeficiency treated

Answer 22

Prophylactic antibiotics (mild)
Immunoglobin replacement (severe)
Gene therapy - SCID