Immunology

Question 1

How is Bare Lymphocyte Syndrome classified?

Answer 1

Type 1: MHC I absent –> decreased CD8

Type 2: MHC II absent –> decreased CD4

Question 2

Where exactly does DiGeorge Syndrome affect on a Chromosome?

Answer 2

Chromosome 22, region 1, band 1, sub-band 2.

aka 22q11.2

Question 3

What are the signs/symptoms of DiGeorge’s syndrome?

Answer 3

CATCH 22

Cardiac abnormality (e.g. tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcaemia/Hypoparathyroidism

22 chromosome

Question 4

What does Bruton’s Agammaglobulinaemia result in at a cellular level?

Answer 4

Tyrosine Kinase defect therefore failed production of mature B cells.

Question 5

Common treatment of Bruton’s Agammaglobulinaemia?

Answer 5

IV infusion of human immunoglobulin for life.

Question 6

Common variable immune deficiency is characterised by what in the blood and clinically?

Answer 6

Low antibodies (IgG, E and A)
Recurrent infections

Question 7

What does Selective IgA deficiency result in clinically?

Answer 7

Recurrent gastro, respiratory and urogenital infections.

Question 8

How many types of Hyper-IgM syndrome are there?

Answer 8

5

Question 9

What is the most common type of Hyper-IgM syndrome and what causes it?

Answer 9

Type 1

X-linked mutation of the CD40 ligand

Question 10

What happens to B cells in Hyper-IgM syndrome?

Answer 10

B cells cannot class switch therefore can only make IgM

Question 11

What is the most common treatment for Severe Combined Immune Deficiency?

Answer 11

Bone Marrow transplant

Question 12

What, in broad terms, is Severe Combined Immune Deficiency?

Answer 12

Both arms of adaptive immune system are impaired due to a defect in several different potential genes.

Question 13

What does Kostmann Syndrome produce at a cellular level?

Answer 13

Neutropenia

Question 14

How is Kostmann Syndrome inherited?

Answer 14

Some Autosomal recessive

Most common form is Autosomal Dominant

Question 15

What therapy is available for Kostmann Syndrome?

Answer 15

Regular exogenous granulocyte colony-stimulating factor

Question 16

What is the inherited molecular defect in Leukocyte adhesion Deiciency Type 1?

Answer 16

Beta-2 integrin subunit (aka CD18) deficiency

Question 17

What test can you perform to confirm a diagnosis of Chronic Granulomatous Disease? What will the result be?

Answer 17

Nitro-Blue tetrazolium = negative in CGD.

Question 18

What are some symptoms of chronic granulomatous disease?

Answer 18

Pneumonia
Abscesses
Suppurative arthritis

Question 19

What is the basic pathophysiology in chronic granulomatous disease?

Answer 19

Defect in one of the four subunits of NADPH oxidase leading to failure of oxidative killing.

Question 20

What therapy can we give to patients with chronic granulomatous disease?

Answer 20

Prophylactic Co-trimoxazole

Question 21

What does reticular dysgenesis result in?

Answer 21

Complete absense of granulocytes: Neutrophils; Eosinophils; Basophils; Mast Cells.

Question 22

What are the different pathways in complement activation?

Answer 22

Classical
Lectin
Alternative

Question 23

Which complement deficiencies are associated with SLE?

Answer 23

low C3 and C4

Question 24

Membranoproliferative glomerulonephritis can cause what complement deficiencies?

Answer 24

low C3

Question 25

Define type 1 hypersensitivity.

Answer 25

Reaction provoked by re-exposure to an allergen. IgE mediated.

Question 26

Give some examples of Type 1 Hypersensitivity disorders.

Answer 26

Asthma
Allergic rhinitis
Atopic dermatitis
Food allergy
Angioedema