Immunology: week I Immunology quiz II Qs

Question 1

Mutations in the Bruton tyrosine kinase (BTK) lead to what condition?

Answer 1

X-linked agammaglobulinemia (XLA)

Question 2

Deletion of Chromosome 22q11. What condition?

Answer 2

DiGeorge’s Syndrome

Question 3

A mutation in the IL-2 receptor gene (IL2RG) leads to what condition?

Answer 3

Severe Combined Immunodeficiency (SCID)

Question 4

A rare X-linked recessive disease causing eczema, thrombocytopenia, immunodeficiency. Can present as bloody diarrhoea. What condition?

Answer 4

Wiskott Aldrich syndrome

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WASP gene mutation

Question 5

Bare lymphocyte syndrome is caused by mutations in what genes?

Answer 5

Those encoding or related to MHC

Question 6

What gene encodes C2, C4 and factor B?

Answer 6

MHC Class III

Question 7

Mutations in the CD40 Ligand gene lead to?

Answer 7

Hyper IgM sydrome

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How or why? Who the fuck knows

Question 8

A 25 year old woman comes to her GP about family planning. She is worried because she had an older brother who died before she was born and her grandmother lost two children which she things were both boys. Her GP thinks there may be a genetic disorder in her family affecting the IL-2 receptor. If correct she has a 50% of inheriting the trait from her mother and being a carrier herself. And there would be a 50% chance of passing it to her children. If inherited, her daughters would be carriers and her sons would require treatment which is usually a bone marrow transplant but gene therapy is sometimes used. Most likely diagnosis?

Answer 8

Severe combined immunodeficiency (SCID)

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IL-2 receptor.

X linked

Question 9

A jaundiced 8 month old child presents with failure to thrive, and a history of recurrent infections (viral, bacterial and fungal). On examination there is hepatomegally and blood tests show a raised alk phos and low CD4 count. A defect is found in the proteins that regulate MHC Class II transcription.

Answer 9

Bare lymphocyte syndrome

Question 10

Patient X’s GP writes inquiring about whether to vaccinate. The patient suffers from recurrent respiratory tract infections and has been diagnosed with one of the B-cell maturation defects. For which one is immunisation still effective?

Answer 10

Selective IgA deficency

Question 11

For which congeital immune disorder would a bone marrow transplant be unhelpful but a thymic transplant may provide a cure?

Answer 11

DiGeorge syndrome

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Not sure how, feel free to look this up

Question 12

In acute rejection, release of this substance from CD8+ lymphocytes helps kill target cells

Answer 12

Granzyme B

Question 13

In acute rejection, these are produced as a result of the activation of neutrophils and macrophages

Answer 13

Free radicals

Question 14

Give 1 risk factor for chronic allograft rejection?

Answer 14

Hypertension

Question 15

Transplanting an ABO incompatible kidney will result in ___ rejection

Answer 15

Hyperacute

Question 16

Treatment of acute antibody mediated rejection?

Answer 16

IV Immunoglobulins and Plasmapheresis

Question 17

Treatment of acute cell mediated rejection?Add

Answer 17

High dose corticosteroids

Question 18

The 3 most important HLA types to screen for in renal transplantation when matching donor and recipient, in order of importance

Answer 18

HLA DR > B > A

Question 19

Lymphocyte that responds to foreign HLA DR types

Answer 19

CD4+ T cells

Question 20

Lymphocyte that responds to foreign HLA A types

Answer 20

CD8+ T cells

Question 21

Corticosteroids, as well as being directly lymphotoxic in high doses, inhibit T-cell function via which other mechanism?

Answer 21

Blocking cytokine synthesis

Question 22

Plasmapheresis may be indicated in which condition?

Answer 22

Goodpasture’s syndrome

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Also, Guillain–Barré syndrome, lupus, myasthenia gravis, and thrombotic thrombocytopenic purpura.