Week 6 - Immunodeficiency

Question 1

Basic cause of X-linked SCID and what it affects

Answer 1

Mutated in the IL-2R(gamma) cytosine receptor

T cells and NK cells fail - B cells still technically ‘working’ BUT can’t actually function due to the lack of helper T cells

Question 2

ADA SCID

Answer 2

Lack of the enzyme adenosine deaminase which catalysis the irreversible conversion of adenosine to inosine and deoxyadenosine to deoxyinosine.

Depletion of T, B and NK cells

Question 3

Hyper IgM syndrome

Answer 3

Lots of IgM antibodies and hardly any other antibodies

Body more susceptible to infection

Question 4

FoxN1 deficiency

Answer 4

Lack of fox1 protein which guides epithelial cells to produce hair follicles and toe nails/finger nails.

Syndromic dysmorphic features

Question 5

Brutons Agammaglobulinaemia

Answer 5

Mutation in Bruton’s A tyrosine-kinase gene

Causing prevention of B cell production

No antibody production - recurrent infection

Question 6

IgA deficiency

Answer 6

Interleukin cytokines are needed to mature lymphocytes into mature IgA plasma cells

Mild/asymptomatic

Sometimes grown out of if detected in childhood

Question 7

Chronic granulomatous disease

Answer 7

Phagocytic cells do not work since NADPH enzymes are faulty. Results in aggregation of these cells

Question 8

Familial Mediterranean fever

Answer 8

Inflammasome cannot convert pro-IL-1 to IL-1 which normally drives inflammation!