Primary Immunodeficiencies

Question 1

what is the definition of immunodeficiences?

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 are the two types of immunodeficiencies?

Answer 2

primary and secondary

Question 3

what is primary immunodeficiencies?

Answer 3

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

Question 4

what is secondary immunodeficiencies?

Answer 4

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

Question 5

List the common primary immunodeficiencies

Answer 5

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

Question 6

What are the different types of B cell deficiencies?

Answer 6

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

Question 7

what is the main pathophysiology of X-linked agamaglobulinemia?

Answer 7

inability of Pro-B cells to differentiate into Pre-B cells

Question 8

In X-linked agamaglobulinemia, what do they not have that makes them not able to initiate recombination and antibody formation

Answer 8

due to lack of a tyrosine kinase

Question 9

Do males or females only get X-linked agamaglobulinemia? (think X-linked)

Answer 9

males

Question 10

what is the treatment for X-linked agamaglobulinemia?

Answer 10

IVIG therapy

Question 11

what is the common feature in common variable immunodeficiency?

Answer 11

hypogammaglobulinemia

Question 12

what does hypogammaglobulinemia mean

Answer 12

low levels of immunoglobulins/antibodies

Question 13

what is the treatment for common variable immunodeficiency?

Answer 13

IVIG therapy

Question 14

what is the only common primary immunodeficiency (1/600)

Answer 14

isolated IgA deficiency

Question 15

what is the pathogenesis of isolated IgA deficiency?

Answer 15

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

Question 16

what is the clinical pearl revolving around isolated IgA deficiency?

Answer 16

the serology for detecting celiac disease is based on detection of IgA antibodies to enzymes that are involved in metabolizing gliadin
- IgA deficiency can result in false negatives in these celiac patients

Question 17

what is Hyper-IgM syndrome

Answer 17

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

Question 18

for hyper-IgM syndrome, the gene is on the ?, thus usually affects ?

Answer 18

X-chromosome
males

Question 19

for hyper-IgM syndrome, those patients also have ? counts decreased for unknown reasons

Answer 19

neutrophils

Question 20

what is the treatment for hyper-IgM syndrome?

Answer 20

IVIG and intense antibiotic prophylaxis

Question 21

what is the primary immunodeficiencies that involve T-cell deficiency?

Answer 21

22q11 deletion syndrome/ DiGeorge syndrome

Question 22

what doesn’t develop in DiGeorge syndrome?

Answer 22

3rd and 4th pharyngeal pouches don’t develop

Question 23

what is missing when the 3rd and 4th pharyngeal pouches don’t develop?

Answer 23

thymus, parathyroid glands, some thyroid tissue

Question 24

in DiGeorge syndrome, what results in variable loss of T-lymphocytes

Answer 24

thymic hypoplasia

Question 25

what primary immunodeficiencies have craniofacial abnormalities?

Answer 25

DiGeorge Syndrome

Question 26

what is the treatment for DiGeorge syndrome?

Answer 26

Infectious disease specialist for immunotherapy, antibiotic prophylaxis

Question 27

50-60% of Severe Combined Immunodeficiency is ?, due to mutation in the ? of a variety of cytokine receptors

Answer 27

X-linked gamma-chain

Question 28

patients with severe combined immunodeficiency, they have what mutations that interferes with somatic recombination?

Answer 28

RAG mutations

Question 29

what are the types of innate immunodeficiencies?

Answer 29

complement defects and hereditary angioedema

Question 30

what is the most common deficiency for complement defects?

Answer 30

C2 deficiency

Question 31

when you have complement defect what disease do you have increased risk to get?

Answer 31

SLE

Question 32

what deficit do you have when you have hereditary angioedema?

Answer 32

deficit in C1 inhibitor

Question 33

when you have a deficit in C1 inhibitor what does that result in?

Answer 33

- unchecked activation of the classical complement pathway - increased bradykinin production - increased activation of certain components of the clotting cascade

Question 34

what is the treatment for hereditary angioedema?

Answer 34

can treat with C1 inhibitor from blood products

Question 35

what are the infections that can be caused by systemic Glucocorticoid Use

Answer 35

- pneumocystis jiroveci pneumonia - herpes zoster (shingles) - tuberculosis - strongyloidiasis

Question 36

what is pneumocystis jiroveci pneumonia?

Answer 36

fungal infection of the lung

Question 37

what is herpes zoster (shingles)

Answer 37

reactivation of varicella zoster virus -> painful rash

Question 38

what is tuberculosis?

Answer 38

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

Question 39

what is strongyloidiasis?

Answer 39

A chronic parasitic infection, usually acquired through direct contact with contaminated soil