036 Immunodeficiency

Question 1

What method is used to detect immunodeficiency?

Answer 1

Fllowcytometer

Question 2

What are two immunodeficiency disease of the neutrophils and how do they work?

Answer 2

Chronic granulomatous disease - mutations in NADPH oxidase preventing functional respiratory burst
Leukocyte adhesion deficiency - defect in B2 gene causing neutrophils not to move out of blood vessels

Question 3

What is a immunodeficiency disease causing no mature antibody secreting B-cells?

Answer 3

X-linked agammaglobulinaemia - Bruton’s tyrosine kinase defect - no mature antibody B cell secretion

Question 4

What is X-linked hyper igM syndrome?

Answer 4

When B cells are unable to undergo class switching from IgM to IgG or IgA and there is no secondary humoral response

Question 5

What is an immunodeficiency disease of mucosal immunity?

Answer 5

Selective IgA deficiency

Question 6

Which disease causes the lack of thymus development?

Answer 6

DiGeorge syndrome

Question 7

What is wiskott-aldrich syndrome?

Answer 7

Impairment in the cytoskeletal organisation particularly in lymphocytes and NK cells

Question 8

What is X-linked lymphoproliferative disease?

Answer 8

Causes increased susceptibility to EBV

Question 9

Where is EBV latent in?

Answer 9

B cells

Question 10

What is severe combined immunodeficiency disease (SCID)?

Answer 10

When it involves both B and T cell deficiencies. Resulting in different sorts of symptoms.

Question 11

What ate the main genes that normally have defects in SCID?

Answer 11

40% in Yc genes, RAG1/RAG2