Immune Deficiency

Question 1

SCID

Answer 1

Severe combined immunodeficiency. Patients are susceptible to serious infections. Onsets in the first year of life. These patients have very few lymphocytes. Many genetic causes.

Question 2

TREC

Answer 2

T receptor excision circles. Loops of spliced out T cell receptor gene that can be found in blood of SCID patients.

Question 3

X-linked agammaglobulinemia

Answer 3

Affects males, severe infections in first year of life. No antibody production. No tonsils. Few B cells. Can be due to defect in BTK.

Question 4

BTK

Answer 4

A B-cell cytoplasmic tyrosine kinase that causes activation. If B cells aren’t consistently activated, they undergo apoptosis.

Question 5

CD40 Ligand Defect

Answer 5

If there is a defect in CD40L, T cells can’t induce class switching in B cells. Causes Hyper IgM!

Question 6

Neutropenia

Answer 6

Too few Neutrophils, frequently occurs after chemotherapy.

Question 7

Chronic granulomatous disease

Answer 7

Neutrophils make it to the site of infection, but no neutralization occurs.

Question 8

Job’s Disease

Answer 8

Stat 3 signalling issue. Autosomal dominant inheritance.

Question 9

Treatment options for immunodeficiency

Answer 9

Bone marrow transplant, Ig replacement, antibiotics.