Name: Margaret Rhoads

Theme: Immunology II

OPTION LIST

A	Reticular Dysgenesis	I	Hyper IgM Syndrome
B	Severe Combined Immunodeficiency (SCID)	J
C	Selective IgA Deficiency	K
D	TAP Deficiency	L
E	Bruton’s x-linked hypogammaglobulinaemia	M
F	DiGeorge Syndrome	N
G	Bare Lymphocyte Syndrome	O
H	Common Variable Immune Deficiency	P

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

1. 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 GO 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.

2. 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.

3. 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?

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

ANSWERS

1. B

2. G

3. C

4. F