Primary Immunodeficiencies

Question 1

what is immunodeficiencies

Answer 1

any defect in the immune response that renders an individual more susceptible to infectious diseases that would be cleared by someone who was healthy

Question 2

what is primary immunodeficiencies

Answer 2

Mostly inborn (genetic) and often detected in infancy or childhood (though some are detected in adulthood)

Question 3

what is secondary immunodeficiencies

Answer 3

Acquired due to external factors (e.g. infection, chemotherapy, medications…)

Question 4

list the 4 B cell deficiencies

Answer 4

• isolated IgA deficiency
• common variable immunodeficiency
• X-linked agammaglobulinemia
• hyper IgM syndrome

Question 5

list the 4 primary immune deficiencies we go through in class

Answer 5

• B cell deficiencies
• DiGeorge syndrome
• severe combined immunodeficiency
• innate immunodeficience

Question 6

what is X-linked agamaglobulinemia?

Answer 6

inability of Pro-B cels to differentiate into Pre-B cells
- lack of tyrosine kinase that usually would initiates recombination and antibody formation

Question 7

T or F: usually only males are affected by X-linked agamaglobulinemia

Answer 7

true

Question 8

what is the treatment for XLA?

Answer 8

IVIG therapy

Question 9

what is the common feature of common variable immunodeficiency?

Answer 9

hypogammaglobulinemia

Question 10

is isolated IgA deficiency common or uncommon?

Answer 10

very common, ony common primary immunodeficiency

Question 11

what is affected in isolated IgA deficiency

Answer 11

reduced amounts of IgA in serum, but normal levels of other antibodies and lymphocytes

Question 12

what is the clinical pearl of isolated IgA deficiency?

Answer 12

the serology for detecting celiac disease is based on detection of IgA antibodies to enzymes that are involved in metabolizing gliadin

Question 13

describe Hyper-IgM syndrome patients

Answer 13

patients make IgM but have difficulty producing IgG, IgA, and IgE

Question 14

what is the gene affected in hyper-IgM syndrome

Answer 14

CD40L deficit or lack of function

Question 15

22q11 deletion (DiGeorge) syndrome is a what deficiency?

Answer 15

T-cell deficiency

Question 16

what are the two innate immunodeficiencies

Answer 16

complement deficiencies and hereditary hemangioma

Question 17

what is the most common deficiency in complement defects?

Answer 17

C2 deficiency

Question 18

what is the defect in hereditary angioedema

Answer 18

C1 inhibitor

Question 19

explain the hereditary angioedema

Answer 19

deficit in C1 inhibitor leading to unchecked activation of the classical complement pathway -> increased bradykinin production and increased activation of certain components of the clotting cascade

Question 20

treatment for hereditary angioedema?

Answer 20

can treat with C1 inhibitor from blood products

Question 21

systemic use of glucocorticoids can increase what?

Answer 21

risk of infections

Question 22

what is fungal infection of the lungs

Answer 22

pneumocystis jiroveci pneumonia

Question 23

what is herpes zoster?

Answer 23

aka shingles, reactivation of varicella zoster virus -> painful rash

Question 24

what is tuberculosis

Answer 24

conversion of latent TB to active form -> usually affects lungs

Question 25

what is strongyloidiasis and how to get it?

Answer 25

a chronic parasitic infection, usually acquired through direct contact with contaminated soil
- can persist for several decades and can reactivate with glucocorticoid exposure