Immunodeficiency

Question 1

DiGeorge’s Syndrome

Answer 1

T-Cell deficiency, both thymus and parathyroids fail to develop property, symptom is tetany due to hypocalcemia

Question 2

Bruton’s agammaglobulinemia (x-linked)

Answer 2

B-cell deficiency, very low levels of all immunoglobulins, virtual absence of B cells are found in young boys, result of mutation in gene encoding tyrosine kinase, an important signal transduction protein, cell mediated immunity is normal, recurrent pyogenic bacterial infections

Question 3

Chronic Granulomatous Disease (CGD)

Answer 3

phagocyte deficiency, susceptible to opportunistic infections with certain bacteria and fungi, result of lack of NADPH oxidase activity, diagnosis confirmed with nitroblue tetrazolium

Question 4

HIV/AIDS

Answer 4

caused by virus HIV, loss of CD4+ T cells, susceptible to opportunistic infections

Question 5

Complement deficiency

Answer 5

increased susceptibility to bacterial infections. ex. neisseria meningitidis.

Question 6

common interleukin-2 gamma chain defect

Answer 6

combined immunodeficiency, mostly male, x-linked, autosomal recessive, early death without bone marrow transplant, blood count shows lymphopenia, need to analyze lymphocyte proliferation

both b cells and t cells are defective. bubble boy. live attenuated viral vaccines should not be given.